Ion Channel Genes

1. SCN1A
   • Dravet syndrome
   • Generalized epilepsy with febrile seizures plus (GEFS+)
2. SCN2A
   • Benign familial neonatal-infantile seizures (BFNIS)
   • Epileptic encephalopathy
3. SCN8A
   • Epileptic encephalopathy
4. KCNQ2
   • Benign familial neonatal seizures (BFNS)
   • Epileptic encephalopathy
5. KCNQ3
   • BFNS
6. CACNA1A
   • Episodic ataxia
   • Familial hemiplegic migraine
   • Epilepsy
7. CACNA1H
   • Childhood absence epilepsy
8. KCNT1
   • Malignant migrating partial seizures of infancy
9. GABRG2
   • GEFS+
   • Childhood absence epilepsy
10. GABRA1
    • Juvenile myoclonic epilepsy
11. SLC2A1 (GLUT1)
    • GLUT1 deficiency syndrome
12. CLCN2
    • Idiopathic generalized epilepsy

Synaptic Function Genes

1. STXBP1
   • Early infantile epileptic encephalopathy
2. SYNGAP1
   • Intellectual disability and epilepsy
3. CDKL5
   • Early infantile epileptic encephalopathy
4. SYN1
   • X-linked epilepsy
5. LGI1
   • Autosomal dominant lateral temporal lobe epilepsy
6. NRXN1
   • Schizophrenia and epilepsy
7. NLGN1
   • Autism spectrum disorders and epilepsy

Metabolic Pathway Genes

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