Gamma-Amino Butyricacid Receptor,Alpha1 |
GABRA1 |
Effect on inhibitory
control of neuronal circuits |
denovo heterozygous missense mutation in
gene |
seizures resulted from impaired functioning of GABA inhibition
in the brain 2-year-old girl with early infantile epileptic
encephalopathy-19 [77] |
Syntaxin-Binding Protein1 |
STXBP1 |
synaptic transmission and
immunoactivity |
denovo heterozygous microdeletion at chromosome
9q33.3-q34.11 |
haploinsufficiency results in impaired synaptic vesicle
release and the phenotype of EIEE. observed in a Japanese girl with
early infantile epileptic encephalopathy-4 [78,79] |
Protocadherin19 |
PCDH19 |
Cognitive function |
Protein termination by
nonsense mutation. Missense mutations cause impaired calcium binding. |
Issue of mosaicism in females may scramble cell-cell communication,
which then manifests clinically as early infantile epileptic
encephalopathy syndrome of female-restricted epilepsy and mental
retardation (EFMR)[80,81] |