Gene name Abbreviation Gene function Molecular genetics Pathogenesis
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]