TY  - GEN
AU  - Mhanni,A A
AU  - Hartley,J N
AU  - Sanger,W G
AU  - Chudley,A E
AU  - Spriggs,E L
TI  - Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder
SN  - 1532-2688
PY  - 2012///0730
KW  - Child, Preschool
KW  - Epilepsy
KW  - diagnosis
KW  - Gene Expression Regulation
KW  - Genes, Dominant
KW  - Genetic Variation
KW  - genetics
KW  - Humans
KW  - Leucine
KW  - Male
KW  - Mutation, Missense
KW  - NAV1.1 Voltage-Gated Sodium Channel
KW  - Nerve Tissue Proteins
KW  - biosynthesis
KW  - Pedigree
KW  - Seizures, Febrile
KW  - Sodium Channels
KW  - Valine
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.seizure.2011.06.014
ER  -