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

1. ALDH7A1
   • Pyridoxine-dependent epilepsy
2. PANK2
   • Pantothenate kinase-associated neurodegeneration
3. MMUT
   • Methylmalonic acidemia with epilepsy
4. SUCLA2
   • Mitochondrial DNA depletion syndrome

Transcription Factor Genes

1. ARX
   • X-linked infantile spasms
   • Partington syndrome
2. FOXG1
   • Rett syndrome variant

Other Genes

1. TSC1/TSC2
   • Tuberous sclerosis complex (associated with epilepsy)
2. MTOR
   • Focal cortical dysplasia
3. DEPDC5
   • Familial focal epilepsy with variable foci
4. PRRT2
   • Benign familial infantile seizures
   • Paroxysmal kinesigenic dyskinesia
5. GATOR1 (DEPDC5, NPRL2, NPRL3)
   • Focal epilepsy
6. PCDH19
   • X-linked epilepsy in females
7. CHD2
   • Epileptic encephalopathy
8. GRIN2A
   • Epilepsy-aphasia spectrum
9. MECP2
   • Rett syndrome
10. SLC13A5
    • Citrate transporter disorder
11. SCN1B
    • GEFS+
12. HNRNPU
    • Early infantile epileptic encephalopathy
13. TBC1D24
    • Epilepsy with myoclonus and dystonia
14. KCNA2
    • Epileptic encephalopathy
15. GRIN2B
    • Epileptic encephalopathy
16. ATP1A3
    • Alternating hemiplegia of childhood
17. ATP1A2
    • Familial hemiplegic migraine with epilepsy
18. KCNMA1
    • Paroxysmal nonkinesigenic dyskinesia with epilepsy
19. ALG13
    • Early infantile epileptic encephalopathy
20. EEF1A2
    • Epileptic encephalopathy
21. RORB
    • Epileptic encephalopathy
22. ZEB2
    • Mowat-Wilson syndrome with epilepsy
23. FMR1
    • Fragile X syndrome with epilepsy

Genetic Epilepsy with Febrile Seizures Plus (GEFS+)

1. SCN1A
2. SCN1B
3. SCN2A
4. GABRG2
5. GABRD
6. GABRA1

Benign Familial Neonatal Seizures (BFNS)

1. KCNQ2
2. KCNQ3
3. SCN2A

Specific Syndromes

1. MECP2
   • Rett syndrome
2. FOXG1
   • Rett syndrome variant
3. SLC13A5
   • Developmental and epileptic encephalopathy