Comprehensive Epilepsy Gene Panel

 
 
Disorder/Clinical Features Genes
Adenylosuccinate Lyase Deficiency ADSL
Angelman/Angelman-Like Syndromes CNTNAP2, SCL9A6, NRXN1, TCF4, UBE3A
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy CHRNA4, CHRNB2, CHRNA2
Autosomal Dominant Partial Epilepsy with Auditory Features LGI1
Baltic Myoclonus (Unverricht-Lundbord Disease) CSTB
Benign Familial Neonatal-Infantile Seizures (Bfnis) SCN2A
Benign Familial Neonatal Seizures (Bfns) KCNQ2, KCNQ3
Creatine Deficiency Syndromes GAMT, GATM
Early-Onset Epileptic Encephalopathy and/or Infantile Spasms ALDH7A1, ARX, ATP6AP2, CDKL5, PCDH19, POLG, PNPO, SCN1A, SLC2A1, SLC25A22, SPTAN1, STXBP1
Epilepsy with Variable Learning and Behavioral Disorders SYN1
Genetics (Generalized) Epilepsy with Febrile Seizures Plus (GEFS+) GABRG2, SCN1A, SCN1B, SCN2A
Glucose transporter Type I Deficiency Syndrome SLC2A1
Juvenile Myoclonic Epilepsy (JME) CACNB4, EFHC1, GABRA1
Lafora Disease EPM2A, EPM2B
Microcephaly with Early-Onset Intractable Seizures and Developmental Delay (MCSZ) PNKP
Mowat-Wilson Syndrome ZEB2
Neuronal Ceroid Lipofuscinoses (NCL) CLN3,CLN5,CLN6,CTSD,CLN8,MFSD8, PPT1,TPP1
Ohtahara Syndrome STXBP1, ARX
Progressive Myoclonic Epilepsy (PME) CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, EPM2A, MFSD8, NHLRC1, PPT1, PRICKLE1, TPP1
Pyridoxine Dependent Seizures ALDH7A1
Rett/Atypical Rett Syndrome CDKL5, FOXG1, MECP2
West Syndrome ARX, CDKL5, STXBP1,TSC1,TSC2