Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.

Wagnon, Jacy L

Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. [electronic resource] - Human mutation 07 2018 - 965-969 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.23547 doi


Child
Epilepsy--genetics
Female
Heterozygote
Humans
Intellectual Disability--genetics
Loss of Function Mutation--genetics
Male
Middle Aged
Mutation
Myoclonus--genetics
NAV1.6 Voltage-Gated Sodium Channel--genetics
Pedigree
Seizures--genetics