Known Genes in Epilepsy and Related Disorders
Genes that are known to cause epilepsy are listed on this page. Click the name of the gene to read more information from the Epilepsiome, a dictionary of epilepsy genes.
ALG13
ALDH5A1
ARHGEF9
ASAH1
ATP1A2
ATP1A3
CASK
CDKL5
CERS1
CHD2
CHRNA2
CHRNA4
CHRNA7
CHRNB2
CNKSR2
CNTNAP2
COL4A1
CSTB
CTSD
DEPDC5
DNM1
DYNC1H1
EEF1A2
EPM2A
FOLR1
FOXG1
GABRA1
GABRB3
GABRD
GABRG2
GNAO1
GOSR2
Epilepsy Syndromes with Genetic Cause
A few of the epilepsy syndromes of a genetic cause are listed here, compiled from the Epilepsiome and Rare Epilepsy Network. Click the name of the syndrome to read more information from the Epilepsiome, a dictionary of epilepsy genes and syndromes.
- Aicardi Syndrome
- Angelman Syndrome
- Batten Disease
- Benign Infantile Seizures
- Benign Neonatal Seizures
- CDKL5 Disorder
- Continuous Spike and Wave of Slow Sleep
- Doose Syndrome (Myoclonic-astatic epilepsy)
- Dravet Syndrome
- Dup15q Syndrome
- Early Myoclonic Encephalophathy
- Electrical Status Epilepticus of Slow Sleep (ESES)
- Febrile Seizures
- GEFS+
- Generalized Epilepsy
- Glut1 Deficiency
- Holoprosencephaly
- Hypothalamic Hamartomas
- Infantile Spasms/West Syndrome
- Jeavon’s Syndrome
- KCNQ2 Mutation
- Landau-Kleffner Syndrome
- Lennox-Gastaut Syndrome
- Lissencephaly
- MMPSI
- Mitochondrial Disorder (Alper’s Disease, Leigh’s Disease)
- Myoclonic Astatic Epilepsy
- Myoclonus Epilepsy with Ragged-Red Fibers (MERRF)
- Neurofibromatosis Type 1
- Ohtahara Syndrome
- Other Progressive Myoclonic Epilepsy (PME)
- PCDH19 Female Epilepsy
- Phelan-McDermid Syndrome
- Polymicrogyria/Congenital Bilateral Perisylvian Syndrome (CBPS)
- Prader-Willi Syndrome
- RAS Pathway Disorders
- Rasmussen’s Encephalopathy
- Rett’s Syndrome
- Ring 14 Syndrome
- Ring 20 Syndrome
- Rolandic Epilepsy
- SCN2A Mutation
- SCN8A Mutation
- Severe Epilepsy with Multiple Independent Spike Foci (SE-MISF)
- SLC13A5 mutation
- Sturge-Weber Syndrome
- SYNGAP1 Mutation
- Tuberous Sclerosis
- Unverricht-Lundborg Syndrome
- Other - Encephalopathy with seizures and a major delay in development
- Other - Neuronal Ceroid Lipofuscinoses (NCL)
- Other - Rare epilepsy or genetic mutation associated with seizures
- Other - Severe Myoclonic Epilepsy of Infancy
