- Tytuł:
-
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. - Autorzy:
- Corporate Authors:
- EuroEPINOMICS RES consortium
- Źródło:
- Nature genetics [Nat Genet] 2015 Apr; Vol. 47 (4), pp. 393-399. Date of Electronic Publication: 2015 Mar 09.
- Typ publikacji:
- Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Mutation*
Epilepsy /*genetics
Kv1.2 Potassium Channel/*genetics
Spasms, Infantile/*genetics
Adult ; Amino Acid Sequence ; Child ; Child, Preschool ; Cohort Studies ; Female ; Genetic Predisposition to Disease ; Humans ; Infant ; Male ; Pedigree ; Young Adult
Czasopismo naukowe