Genetic of Epilepsies

Clinical Features

Mendelian Epilepsie syndromes and corresponding genes:

(* genes analysed at the MGZ)

Syndrome	OMIM	Gene
GEFS+ „Generalised epilepsy with febrile seizures plus“	604233	SCN1A *	sodium channel, neuronal type I, alpha subunit
	600235	SCN1B *	beta-subunit
	182390	SCN2A *	alpha2-subunit
	137164	GABRG2 *	gamma aminobutyric acid receptor, gamma-2
Dravet-Syndrom, „Severe myoclonic epilepsy of infancy“, SMEI	607208	SCN1A *	sodium channel, neuronal type I, alpha1 subunit
Benign familial neonatal convulsions, BFNC / BFIC	607745	SCN2A *	sodium channel, neuronal type II, alpha2 subunit
Benign familial neonatal convulsions, BFNC	607745	KCNQ2 *	potassium channel, voltage-gated, KQT-like subfamily, member 2
Benign familial neonatal convulsions, BFNC	602232	KCNQ3 *	potassium channel, voltage-gated, KQT-like subfamily, member 3
Verschiedene IGE-Syndrome	600131	CLCN2	Chlorid channel 2; CAE, JAE, JME, EGMA
GLUT1-Defizienz	138140	SLC2A1*	Glucose transporter GLUT1
Childhood absence epilepsi, CAE	600131 607681	CACNA1H *	calcium channel, voltage-dependent, t type, alpha-1h subunit
	137164	GABRG2 *	gamma-aminobutyric acid receptor
	138140	SLC2A1*	Glukosetransporter GLUT1
Generalized Epilepsy and Paroxysmal Dyskinesia	609446	KCNMA1	large conductance calcium-sensitive potassium channel
Juvenile myoclonic epilepsy, JME	254770	EFHC1	EF-hand domain-containing protein 1
	606904	GABRA1	gamma-aminobutyric acid receptor, alpha-1
	601949	CACNB4	calcium channel, voltage-dependent, beta-4 subunit
	137163	GABRD *	gamma-aminobutyric acid receptor, delta
	601949	CACNB4	calcium channel, voltage-dependent, beta-4 subunit
Autosomal dominant nocturnal frontal lobe epilepsy, ADNFLE	605375	CHRNA4	acetylcholine receptor, neuronal nicotinic, alpha-4 subunit
Autosomal dominant nocturnal frontal lobe epilepsy, ADNFLE	600513	CHRNB2	acetylcholine receptor, neuronal nicotinic, beta-2 subunit
Autosomal Dominant Lateral Temporal Lobe Epilepsy, ADLTE	600512	LGI1	leucine-rich gene, glioma-inactivated
Unverricht-Lundborg-Disease, ULD	254800	CYSTB *	Cystatin-B, Protease-Inhibitor
Lafora-Disease	254780	EPM2A	Laforin und NHLRC1, Malin
Mitochondriopathien mit Epilepsie als Leitsymptom	545000	MTTK *	transfer rna, mitochondrial, lysine
Mitochondriopathien mit Epilepsie als Leitsymptom	174763	POLG1 *	Polymerase, DNA, gamma
Neuronal ceroid lipofuscinosis, variant subunit	125370	CLN1 - CLN8
Sialidosen	608272	NEU1	alpha-neuraminidase
	256540	PPCA	beta-Galaktosidase protective protein
X-linked West-Syndrom, ISSX, infantile spasm syndrome	308350	ARX *	X-chromosomal
Infantile Epilepsie	300203	CDKL5 *	Cyclin-dependent kinase-like 5
Periventrikuläre Heterotopie, X-chromosomal	300049	FLNA	Filamin-A
Lissenzephalie, X-chromosomal	300067	DCX	Doublecortin
Lissenzephalie, LIS1	607432	LIS1, PAFAH1B1	Platelet-Activating Factor Acetylhydrolase
Miller-Dieker-Lissenzephalie	247200	Microdeletion17p13.3 inclusive LIS1-Gen *
Lissenzephalie mit abnormalen Genitalien, XLAG	300215	ARX *	Aristaless-related homeobox, X-linked
XMESID-Syndrom, X-linked myoclonic epilepsy with generalized spasticity and intellectual disability	300432	ARX *	Aristaless-related homeobox, X-linked
Ohtahara-Syndrom	602926	STXBP1*	Syntaxin-binding protein 1
Fragiles X-Syndrom	309550	FMR1 *	fragile X mental retardation
X-linked, epilepsy, with variable learning disabilities and behavior disorders	300491	SYN1	Synapsin 1
Angelman-Syndrom	105830	Maternal 15q11q13-Deletion *
	601623	UBE3A	Ubiquitin protein-ligase, 15q11q13
	300231	SCL9A6*	Solute carrier family 9, member 6
X-chromosomale Epilepsie, Ataxie, DD Angelman-Syndrom	300231	SLC9A6 *	Solute carrier family 9, member 6
Rett-Syndrom	312750	MECP2 *	Methyl-CpG-binding protein 2
	300203	CDKL5*	Cyclin-dependent kinase-like 5
	164874	FOXG1*	Forkhead box G1