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Tytuł:
Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability.
Autorzy:
Hussain SI; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
Shah SUD; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
Fardous F; Department of Medical Lab Technology, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
Khan SA; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
Khan N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
Rehman AU; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
Siddique M; Department of Zoology, Government Post Graduate College for Women, Satellite Town, Gujranwala, Pakistan.
Wasan SA; Department of Botany, Faculty of Natural Sciences, Shah Abdul Latif University, Khairpur, Sindh, Pakistan.
Niaz R; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
Ullah H; Gomal Center of Biochemistry and Biotechnology (GCBB), Gomal University D. I. Khan, D. I. Khan, Pakistan.
Khan N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan.
Mirza MU; Department of Chemistry and Biochemistry, University of Windsor, Windsor, ON, N9B 1C4, Canada.
Wasif N; Institute of Human Genetics, Ulm University and Ulm University Medical Center, 89081, Ulm, Germany. .; Institute of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany. .
Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat, Khyber Pakhtunkhwa, Pakistan. .
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Źródło:
BMC neurology [BMC Neurol] 2023 Oct 04; Vol. 23 (1), pp. 353. Date of Electronic Publication: 2023 Oct 04.
Typ publikacji:
Journal Article
MeSH Terms:
Intellectual Disability*/genetics
Epilepsy*/complications
Microcephaly*/genetics
Humans ; Mutation ; Ions ; Pedigree
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia.
Autorzy:
Martins M; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.; Faculty of Pharmacy, University of Coimbra, 3000-548 Coimbra, Portugal.
Oliveira AR; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.
Martins S; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.; Institute for Interdisciplinary Research, University of Coimbra, 3030-789 Coimbra, Portugal.
Vieira JP; Neuropediatrics Unit, Central Lisbon Hospital Center, 1169-045 Lisbon, Portugal.
Perdigão P; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.; Institute for Interdisciplinary Research, University of Coimbra, 3030-789 Coimbra, Portugal.
Fernandes AR; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.; Institute for Interdisciplinary Research, University of Coimbra, 3030-789 Coimbra, Portugal.
de Almeida LP; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.; Faculty of Pharmacy, University of Coimbra, 3000-548 Coimbra, Portugal.
Palma PJ; Institute of Endodontics, Faculty of Medicine, University of Coimbra, 3000-075 Coimbra, Portugal.; Center for Innovation and Research in Oral Sciences (CIROS), Faculty of Medicine, University of Coimbra, 3000-075 Coimbra, Portugal.
Sequeira DB; Institute of Endodontics, Faculty of Medicine, University of Coimbra, 3000-075 Coimbra, Portugal.; Center for Innovation and Research in Oral Sciences (CIROS), Faculty of Medicine, University of Coimbra, 3000-075 Coimbra, Portugal.
Santos JMM; Institute of Endodontics, Faculty of Medicine, University of Coimbra, 3000-075 Coimbra, Portugal.; Center for Innovation and Research in Oral Sciences (CIROS), Faculty of Medicine, University of Coimbra, 3000-075 Coimbra, Portugal.
Duque F; University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra, 3000-602 Coimbra, Portugal.; Child Developmental Center and Research and Clinical Training Center, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra (CHUC), 3000-602 Coimbra, Portugal.
Oliveira G; University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra, 3000-602 Coimbra, Portugal.; Child Developmental Center and Research and Clinical Training Center, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra (CHUC), 3000-602 Coimbra, Portugal.
Cardoso AL; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.; Institute for Interdisciplinary Research, University of Coimbra, 3030-789 Coimbra, Portugal.
Peça J; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.; Department of Life Sciences, University of Coimbra, 3000-456 Coimbra, Portugal.
Seabra CM; Center for Neuroscience and Cell Biology (CNC), University of Coimbra, 3004-504 Coimbra, Portugal.; Institute for Interdisciplinary Research, University of Coimbra, 3030-789 Coimbra, Portugal.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Aug 09; Vol. 24 (16). Date of Electronic Publication: 2023 Aug 09.
Typ publikacji:
Journal Article
MeSH Terms:
Intellectual Disability*/genetics
Epilepsy*/genetics
Neurodevelopmental Disorders*
Child ; Humans ; Cilia/genetics ; Seizures ; DNA-Binding Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Variant in TBCD Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report.
Autorzy:
Caputo M; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Martinelli I; Department of Neurosciences, Azienda Ospedaliero-Universitaria Di Modena, Viale Giardini, 1355, 41126 Modena, Italy.; Clinical and Experimental PhD Program, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Fini N; Department of Neurosciences, Azienda Ospedaliero-Universitaria Di Modena, Viale Giardini, 1355, 41126 Modena, Italy.
Gianferrari G; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Simonini C; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Trovato R; Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
Santorelli FM; Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
Tessa A; Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.
Mandrioli J; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.; Department of Neurosciences, Azienda Ospedaliero-Universitaria Di Modena, Viale Giardini, 1355, 41126 Modena, Italy.
Zucchi E; Department of Neurosciences, Azienda Ospedaliero-Universitaria Di Modena, Viale Giardini, 1355, 41126 Modena, Italy.; Neuroscience PhD Program, University of Modena and Reggio Emilia, 41125 Modena, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Aug 03; Vol. 24 (15). Date of Electronic Publication: 2023 Aug 03.
Typ publikacji:
Case Reports
MeSH Terms:
Intellectual Disability*/genetics
Epilepsy*
Humans ; Microtubule-Associated Proteins/metabolism ; Corpus Callosum/diagnostic imaging ; Corpus Callosum/metabolism ; Tubulin/metabolism
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Brief Report: Psychogenic Nonepileptic Events in Pediatric Patients with Autism or Intellectual Disability.
Autorzy:
Freedman DA; Department of Neurology, Dell Medical School, 1301 Barbara Jordan Blvd., Ste 200-G, Austin, TX, 78723, USA. .
Terry D; Division of Child Neurology, Nationwide Children's Hospital, Columbus, OH, USA.
Enciso L; Division of Child Neurology, Nationwide Children's Hospital, Columbus, OH, USA.
Trott K; Division of Pediatric Psychology and Neuropsychology, Nationwide Children's Hospital, Columbus, OH, USA.
Burch M; Division of Child Neurology, Nationwide Children's Hospital, Columbus, OH, USA.
Albert DVF; Division of Child Neurology, Nationwide Children's Hospital, Columbus, OH, USA.
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2023 Jul; Vol. 53 (7), pp. 2928-2932. Date of Electronic Publication: 2022 Feb 25.
Typ publikacji:
Journal Article
MeSH Terms:
Autistic Disorder*
Autism Spectrum Disorder*/diagnosis
Autism Spectrum Disorder*/epidemiology
Autism Spectrum Disorder*/psychology
Intellectual Disability*/diagnosis
Intellectual Disability*/epidemiology
Intellectual Disability*/psychology
Epilepsy*/diagnosis
Epilepsy*/epidemiology
Epilepsy*/psychology
Humans ; Child ; Male ; Retrospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Variants in BRWD3 associated with X-linked partial epilepsy without intellectual disability.
Autorzy:
Tian MQ; Institute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China.; Department of Pediatrics, Affiliated Hospital of Zunyi Medical University, Zunyi, China.
Liu XR; Institute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China.
Lin SM; Institute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China.
Wang J; Institute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China.
Luo S; Institute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China.
Gao LD; Institute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China.
Chen XB; Department of Pediatrics, The 900th Hospital of Joint Logistic Support Force, Fuzhou, China.
Liang XY; Institute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China.
Liu ZG; Department of Pediatrics, Affiliated Foshan Maternity & Child Healthcare Hospital, Southern Medical University, Foshan, China.
He N; Institute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China.
Yi YH; Institute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China.
Liao WP; Institute of Neuroscience and Department of Neurology of the Second Affiliated Hospital of Guangzhou Medical University, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Guangzhou, China.
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Corporate Authors:
China Epilepsy Gene 1.0 Project
Źródło:
CNS neuroscience & therapeutics [CNS Neurosci Ther] 2023 Feb; Vol. 29 (2), pp. 727-735. Date of Electronic Publication: 2022 Dec 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Intellectual Disability*/genetics
Epilepsies, Partial*/genetics
Epilepsy*/genetics
Seizures, Febrile*
Humans ; Male ; Female ; Mutation ; Anticonvulsants ; Transcription Factors/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.
Autorzy:
Spagnoli C; Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.
Fusco C; Child Neurology and Psychiatry Unit, Department of Pediatrics, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.
Pisani F; Human Neurosciences Department, Sapienza University of Rome, 00185 Rome, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Feb 14; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 14.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Parkinsonian Disorders*
Intellectual Disability*
Neurodegenerative Diseases*
Epilepsy*/genetics
Child ; Humans ; Seizures
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.
Autorzy:
Khalilov D; Istanbul Faculty of Medicine, Department of Neurology, Istanbul University, Istanbul, Turkey.
Haryanyan G; Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul University, Istanbul, Turkey.; Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, Turkey.
Salman B; Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul University, Istanbul, Turkey.; Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, Turkey.
Yucesan E; Institute of Neurological Sciences, Department of Neurogenetics, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Ugur Iseri S; Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul University, Istanbul, Turkey.
Bebek N; Istanbul Faculty of Medicine, Department of Neurology, Istanbul University, Istanbul, Turkey.
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Źródło:
Neurocase [Neurocase] 2022 Dec; Vol. 28 (6), pp. 488-492. Date of Electronic Publication: 2023 Feb 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Epilepsy*
Neurodevelopmental Disorders*/genetics
Intellectual Disability*
Humans ; Siblings ; Seizures ; Phenotype ; Intracellular Signaling Peptides and Proteins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A KCNC1-related neurological disorder due to gain of Kv3.1 function.
Autorzy:
Clatot J; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy Neurogenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Ginn N; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy Neurogenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.
Goldberg EM; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy Neurogenetics Initiative, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Department of Neuroscience, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Jan; Vol. 10 (1), pp. 111-117. Date of Electronic Publication: 2022 Nov 23.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Epilepsy*/genetics
Intellectual Disability*/genetics
Myoclonic Epilepsies, Progressive*/genetics
Shaw Potassium Channels*/genetics
Animals ; Ataxia/genetics ; Mammals ; Mutation, Missense ; Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Readmission and emergency department presentation after hospitalisation for epilepsy in people with intellectual disability: A data linkage study.
Autorzy:
Liao P; Faculty of Medicine and Health, Department of Developmental Disability Neuropsychiatry, Discipline of Psychiatry and Mental Health, University of New South Wales, Sydney, Australia.
Vajdic CM; Faculty of Medicine and Health, Centre for Big Data Research in Health, University of New South Wales, Sydney, Australia.
Reppermund S; Faculty of Medicine and Health, Department of Developmental Disability Neuropsychiatry, Discipline of Psychiatry and Mental Health, University of New South Wales, Sydney, Australia.; Faculty of Medicine and Health, Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, University of New South Wales, Sydney, Australia.
Cvejic RC; Faculty of Medicine and Health, Department of Developmental Disability Neuropsychiatry, Discipline of Psychiatry and Mental Health, University of New South Wales, Sydney, Australia.
Watkins TR; Faculty of Medicine and Health, Department of Developmental Disability Neuropsychiatry, Discipline of Psychiatry and Mental Health, University of New South Wales, Sydney, Australia.
Srasuebkul P; Faculty of Medicine and Health, Department of Developmental Disability Neuropsychiatry, Discipline of Psychiatry and Mental Health, University of New South Wales, Sydney, Australia.
Trollor J; Faculty of Medicine and Health, Department of Developmental Disability Neuropsychiatry, Discipline of Psychiatry and Mental Health, University of New South Wales, Sydney, Australia.; Faculty of Medicine and Health, Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, University of New South Wales, Sydney, Australia.
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Źródło:
PloS one [PLoS One] 2022 Aug 01; Vol. 17 (8), pp. e0272439. Date of Electronic Publication: 2022 Aug 01 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Epilepsy*/complications
Epilepsy*/epidemiology
Intellectual Disability*/complications
Intellectual Disability*/epidemiology
Adult ; Child ; Emergency Service, Hospital ; Hospitalization ; Humans ; Information Storage and Retrieval ; Patient Readmission ; Retrospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Bone health, intellectual disability and epilepsy: An observational community-based study.
Autorzy:
Winterhalder R; Oxleas NHS Foundation Trust, Sidcup, UK.
McCabe J; University of Exeter Medical School, Truro, UK.
Young C; Cornwall Partnership NHS Foundation Trust, Truro, UK.
Lamb K; Cornwall Intellectual Disability Epilepsy Research (CIDER), University of Plymouth Peninsula School of Medicine, Truro, UK.
Sawhney I; Hertfordshire Partnership University NHS Foundation Trust, Essex, UK.
Jory C; Cornwall Partnership NHS Foundation Trust, Truro, UK.
O'Dwyer M; School of Pharmacy and Pharmaceutical Sciences Trinity College, Dublin 2, Ireland.
Shankar R; Cornwall Partnership NHS Foundation Trust, Truro, UK.; Cornwall Intellectual Disability Epilepsy Research (CIDER), University of Plymouth Peninsula School of Medicine, Truro, UK.
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Źródło:
Acta neurologica Scandinavica [Acta Neurol Scand] 2022 Jun; Vol. 145 (6), pp. 753-761. Date of Electronic Publication: 2022 Mar 17.
Typ publikacji:
Journal Article; Observational Study
MeSH Terms:
Epilepsy*/drug therapy
Epilepsy*/epidemiology
Intellectual Disability*/drug therapy
Intellectual Disability*/epidemiology
Vitamin D Deficiency*/complications
Vitamin D Deficiency*/epidemiology
Bone Density ; Humans ; Prospective Studies ; Vitamin D/therapeutic use ; Vitamins/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.
Autorzy:
Mangano GD; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro,' University of Palermo, Palermo, Italy.
Fontana A; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro,' University of Palermo, Palermo, Italy.
Antona V; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro,' University of Palermo, Palermo, Italy.
Salpietro V; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy.
Mangano GR; Department of Psychology, Educational Sciences and Human Movement, University of Palermo, Palermo, Italy.
Giuffrè M; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro,' University of Palermo, Palermo, Italy.
Nardello R; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro,' University of Palermo, Palermo, Italy.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 May; Vol. 10 (5), pp. e1911. Date of Electronic Publication: 2022 Mar 29.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Autism Spectrum Disorder*/genetics
Epilepsy*/genetics
Intellectual Disability*/genetics
NAV1.2 Voltage-Gated Sodium Channel*/genetics
NAV1.6 Voltage-Gated Sodium Channel*/genetics
Neurodevelopmental Disorders*/genetics
Humans ; Observational Studies as Topic ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Autorzy:
Berecki G; Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia. .
Howell KB; Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia.; Department of Neurology, Royal Children's Hospital, Parkville, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia.; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.
Heighway J; Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia.
Olivier N; Praxis Precision Medicines, Inc, Cambridge, MA, 02142, USA.
Rodda J; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.
Overmars I; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.
Vlaskamp DRM; Departments of Neurology and Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Ware TL; Department of Paediatrics, Royal Hobart Hospital, Hobart, TAS, 7000, Australia.
Ardern-Holmes S; Department of Neurology, Children's Hospital Westmead, Sydney, NSW, Australia.
Lesca G; Service de Génétique, Hospices Civils de Lyon, 69002, Lyon, France.
Alber M; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, Tübingen, Germany.
Veggiotti P; Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy.
Scheffer IE; Department of Neurology, Royal Children's Hospital, Parkville, VIC, 3052, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia.; Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.
Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.
Wolff M; Pediatric Neurology, Vivantes Hospital Neukölln, Berlin, Germany.
Petrou S; Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia. .; Praxis Precision Medicines, Inc, Cambridge, MA, 02142, USA. .; Department of the Florey Institute, University of Melbourne, Parkville, VIC, 3050, Australia. .
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Źródło:
Communications biology [Commun Biol] 2022 May 30; Vol. 5 (1), pp. 515. Date of Electronic Publication: 2022 May 30.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Autism Spectrum Disorder*/genetics
Epilepsy*/genetics
Intellectual Disability*/genetics
Humans ; NAV1.2 Voltage-Gated Sodium Channel/genetics ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.
Autorzy:
Liang L; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, P. R. China.
Liu H; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, P. R. China.
Bartholdi D; Department of Human Genetics, Inselspital, University Hospital Bern, Bern, Switzerland.
van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Fernandez-Jaén A; Hospital Universitario Quirónsalud, School of Medicine, Universidad Europea de Madrid, Madrid, Spain.
Peeters EEA; Department of Child Neurology, Juliana Children's Hospital, HAGA Medical Center, The Hague, the Netherlands.
Xiong H; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, P. R. China.
Bai X; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, P. R. China.
Xu C; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, P. R. China.
Ke T; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, P. R. China.
Wang QK; Center for Human Genome Research, Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, P. R. China.
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Źródło:
Acta physiologica (Oxford, England) [Acta Physiol (Oxf)] 2022 May; Vol. 235 (1), pp. e13800. Date of Electronic Publication: 2022 Feb 23.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Epilepsy*/genetics
Epilepsy*/pathology
Intellectual Disability*/genetics
Ataxia/genetics ; Humans ; Large-Conductance Calcium-Activated Potassium Channel alpha Subunits/genetics ; Large-Conductance Calcium-Activated Potassium Channels/genetics ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Daily Brief Heat Therapy Reduces Seizures in A350V IQSEC2 Mice and Is Associated with Correction of AMPA Receptor-Mediated Synaptic Dysfunction.
Autorzy:
Jada R; Technion Faculty of Medicine, Technion Israel Institute of Technology, Haifa 3200003, Israel.
Borisov V; Technion Faculty of Medicine, Technion Israel Institute of Technology, Haifa 3200003, Israel.
Laury E; Technion Faculty of Medicine, Technion Israel Institute of Technology, Haifa 3200003, Israel.
Halpert S; Technion Faculty of Medicine, Technion Israel Institute of Technology, Haifa 3200003, Israel.
Levy NS; Technion Faculty of Medicine, Technion Israel Institute of Technology, Haifa 3200003, Israel.
Wagner S; Sagol Department of Neurobiology, Faculty of Natural Sciences, University of Haifa, Haifa 3498838, Israel.
Netser S; Sagol Department of Neurobiology, Faculty of Natural Sciences, University of Haifa, Haifa 3498838, Israel.
Walikonis R; Department of Physiology, University of Connecticutt, Storrs, CT 06269, USA.
Carmi I; Technion Faculty of Medicine, Technion Israel Institute of Technology, Haifa 3200003, Israel.
Berlin S; Technion Faculty of Medicine, Technion Israel Institute of Technology, Haifa 3200003, Israel.
Levy AP; Technion Faculty of Medicine, Technion Israel Institute of Technology, Haifa 3200003, Israel.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Feb 15; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 15.
Typ publikacji:
Journal Article
MeSH Terms:
Epilepsy*/therapy
Guanine Nucleotide Exchange Factors*/genetics
Nerve Tissue Proteins*/genetics
Seizures*/therapy
Hyperthermia, Induced*
Animals ; Child ; Humans ; Mice ; Hot Temperature ; Intellectual Disability/genetics ; Mutation ; Receptors, AMPA/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.
Autorzy:
Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Do Rosario MC; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Karanvir; Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
Shankar R; Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
Sharma S; Neurology Division, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
Siddiqui S; Department of Neuroimaging and Interventional Radiology, STAR Institute of Neurosciences, STAR Hospitals, Hyderabad, Telangana, India.
Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
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Źródło:
Annals of human genetics [Ann Hum Genet] 2022 Mar; Vol. 86 (2), pp. 94-101. Date of Electronic Publication: 2021 Dec 08.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Epilepsy*/genetics
Epilepsy*/pathology
Intellectual Disability*/pathology
Neurodevelopmental Disorders*/pathology
Atrophy/pathology ; Brain ; Humans ; Muscles
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Bone mineral density and fractures in institutionalised children with epilepsy and intellectual disability.
Autorzy:
Berkvens JJL; Department of Residential Care, Epilepsy Centre Kempenhaeghe, Heeze, The Netherlands.
Mergler S; Medical Department, ASVZ, Care and Service Centre for People with Intellectual Disabilities, Sliedrecht, The Netherlands.; Department of General Practice and Intellectual Disability Medicine, Erasmus University Medical Centre, Rotterdam, The Netherlands.
Beerhorst K; Department of Neurology, Zuyderland Medical Centre, Heerlen, The Netherlands.
Verschuure P; Laboratory for Clinical Chemistry and Pharmacology, Epilepsy Centre Kempenhaeghe, Heeze, The Netherlands.
Tan IY; Department of Residential Care, Epilepsy Centre Kempenhaeghe, Heeze, The Netherlands.
Majoie HJM; Department of Neurology, Academic Centre for Epileptology Kempenhaeghe, Maastricht University Medical Centre, Heeze, The Netherlands.; MHeNs School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht, The Netherlands.; School of Health Professions Education, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, the Netherlands.
van den Bergh JPW; Department of Internal Medicine, VieCuri Medical Centre, Venlo, The Netherlands.; NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht University Medical Centre, Maastricht, The Netherlands.
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Źródło:
Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2021 Nov; Vol. 65 (11), pp. 962-970. Date of Electronic Publication: 2021 Sep 02.
Typ publikacji:
Journal Article
MeSH Terms:
Epilepsy*/drug therapy
Epilepsy*/epidemiology
Intellectual Disability*/epidemiology
Osteoporosis*
Adolescent ; Bone Density ; Child ; Child, Institutionalized ; Child, Preschool ; Cross-Sectional Studies ; Female ; Humans ; Male ; Retrospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Antiepileptic drugs, occurrence of seizures and effect of co-administration of potential seizure threshold-lowering psychotropic drugs in adults with intellectual disability who have epilepsy.
Autorzy:
Monaghan R; School of Pharmacy and Pharmaceutical Sciences, Trinity College Dublin, Dublin, Ireland.; The Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing (IDS-TILDA), School of Nursing & Midwifery, Trinity College Dublin, Dublin, Ireland.
O'Dwyer M; School of Pharmacy and Pharmaceutical Sciences, Trinity College Dublin, Dublin, Ireland.
Luus R; Trinity Centre for Ageing and Intellectual Disability, School of Nursing & Midwifery, Trinity College Dublin, Dublin, Ireland.
Mulryan N; The Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing (IDS-TILDA), School of Nursing & Midwifery, Trinity College Dublin, Dublin, Ireland.; Daughters of Charity, Disability Support Services, Ireland.
McCallion P; School of Social Work, College of Public Health, Temple University, Philadelphia, PA, USA.
McCarron M; Trinity Centre for Ageing and Intellectual Disability, School of Nursing & Midwifery, Trinity College Dublin, Dublin, Ireland.
Henman MC; School of Pharmacy and Pharmaceutical Sciences, Trinity College Dublin, Dublin, Ireland.
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Źródło:
Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2021 May; Vol. 34 (3), pp. 818-829. Date of Electronic Publication: 2021 Feb 02.
Typ publikacji:
Journal Article
MeSH Terms:
Epilepsy*/drug therapy
Epilepsy*/epidemiology
Intellectual Disability*/drug therapy
Intellectual Disability*/epidemiology
Adult ; Anticonvulsants/therapeutic use ; Humans ; Longitudinal Studies ; Psychotropic Drugs/adverse effects ; Seizures/drug therapy ; Seizures/epidemiology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.
Autorzy:
Braun F; Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, Department of Pediatric Neurology, University Duisburg-Essen, 45147 Essen, Germany.
Hentschel A; Leibniz-Institut für Analytische Wissenschaften-ISAS e.V., 44139 Dortmund, Germany.
Sickmann A; Leibniz-Institut für Analytische Wissenschaften-ISAS e.V., 44139 Dortmund, Germany.
Marteau T; Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, Department of Pediatric Neurology, University Duisburg-Essen, 45147 Essen, Germany.
Hertel S; Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, Department of Pediatric Neurology, University Duisburg-Essen, 45147 Essen, Germany.
Förster F; Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, Department of Pediatric Neurology, University Duisburg-Essen, 45147 Essen, Germany.
Prokisch H; Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Helmholtz Zentrum München-German Research Center for Environmental Health, Institute of Neurogenomics, 85764 Neuherberg, Germany.
Wagner M; Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Helmholtz Zentrum München-German Research Center for Environmental Health, Institute of Neurogenomics, 85764 Neuherberg, Germany.
Wortmann S; Institute of Human Genetics, Klinikum Rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
Della Marina A; Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, Department of Pediatric Neurology, University Duisburg-Essen, 45147 Essen, Germany.
Kölbel H; Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, Department of Pediatric Neurology, University Duisburg-Essen, 45147 Essen, Germany.
Roos A; Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, Department of Pediatric Neurology, University Duisburg-Essen, 45147 Essen, Germany.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada.
Schara-Schmidt U; Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, Department of Pediatric Neurology, University Duisburg-Essen, 45147 Essen, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Jul 22; Vol. 22 (15). Date of Electronic Publication: 2021 Jul 22.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation*
ATPases Associated with Diverse Cellular Activities/*genetics
Epilepsy/*pathology
Hearing Loss/*pathology
Intellectual Disability/*pathology
Muscular Diseases/*pathology
Proteome/*metabolism
ATPases Associated with Diverse Cellular Activities/deficiency ; Child ; Epilepsy/etiology ; Epilepsy/metabolism ; Female ; Hearing Loss/etiology ; Hearing Loss/metabolism ; Humans ; Intellectual Disability/etiology ; Intellectual Disability/metabolism ; Muscular Diseases/complications ; Muscular Diseases/metabolism ; Proteome/analysis ; Syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Clinical predictors of drug-resistant epilepsy in children
Autorzy:
Karaoğlu P; Pediatric Neurology Clinic, University of Health Sciences Dr. Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, İzmir, Turkey
Yaş U; Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey
Polat Aİ; Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey
Ayanoğlu M; Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey
Hız S; Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, İzmir, Turkey
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Źródło:
Turkish journal of medical sciences [Turk J Med Sci] 2021 Jun 28; Vol. 51 (3), pp. 1249-1252. Date of Electronic Publication: 2021 Jun 28.
Typ publikacji:
Journal Article
MeSH Terms:
Epilepsy*/drug therapy
Epilepsy*/epidemiology
Intellectual Disability*/drug therapy
Intellectual Disability*/epidemiology
Pharmaceutical Preparations*
Status Epilepticus*/drug therapy
Status Epilepticus*/epidemiology
Anticonvulsants/therapeutic use ; Child ; Humans ; Infant, Newborn ; Prospective Studies ; Quality of Life ; Retrospective Studies ; Seizures/drug therapy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene.
Autorzy:
Alagia M; Department of Translational Medical Sciences, Child Neurology, University of Naples Federico II, Naples, Italy.
Bernardo P; Department of Translational Medical Sciences, Child Neurology, University of Naples Federico II, Naples, Italy.; Pediatric Neurology and Psychiatric, Department of Pediatric Neurosciences, Santobono-Pausilipon Children's Hospital, Naples, Italy.
Genesio R; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.
Gennaro E; Human Genetic Laboratory, 'G. Gaslini' Institute, University of Genoa, Genoa, Italy.
Brunetti-Pierri N; Department of Translational Medical Sciences, University of Naples Federico II, and Telethon Institute of Genetics and Medicine, Naples, Italy.
Coppola A; Epilepsy Centre, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Zara F; Human Genetic Laboratory, 'G. Gaslini' Institute, University of Genoa, Genoa, Italy.
Striano P; Pediatric Neurology and Muscular Diseases Unit, Departments of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genoa, Italy.
Striano S; Epilepsy Centre, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
Terrone G; Department of Translational Medical Sciences, Child Neurology, University of Naples Federico II, Naples, Italy. .
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 May; Vol. 42 (5), pp. 2115-2117. Date of Electronic Publication: 2020 Nov 17.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Epilepsy*/diagnosis
Epilepsy*/genetics
Intellectual Disability*/diagnosis
Intellectual Disability*/genetics
Child ; GTP Phosphohydrolases/genetics ; Humans ; Membrane Proteins/genetics ; Mutation ; NAV1.6 Voltage-Gated Sodium Channel/genetics ; Seizures ; Sequence Deletion
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 1421

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