Gene: [20q133/KCNQ2] potassium voltage-gated channel, KQT-like subfamily, member 2; epilepsy, benign neonatal 1 (MIM:121200); benign familial neonatal convulsions 1 (MIM:121200); [EBN EBN1 ]

CAG

On benign familial neonatal convulsions 2 see GEM:08q24/KCNQ3.

REF

MUT "Biervert C &: Science, 279, N5349, 403-406, 1998
LIN,MAP "Leppert M &: Nature, 337, N6208, 647-648, 1989
LIN,LOC,HET "Malafosse A &: Hum Genet, 89, 54-58, 1992
MUT "Singh NA &: Nature Genet, 18, N1, 25-29, 1998

KEY

mem, ion, sign, neu

CLA

coding, basic

LOC

20 q13.3

MIM

MIM: 602235

SYN

EBN EBN1

Ссылки: