Neurology Research International

Review Article

From Genetics to Genomics of Epilepsy

Table 4

Epilepsy with mental retardation and brain malformations.
Gene symbol Name Disease
(a) Mental retardation (25 genes)
ARHGEF9Cdc42 guanine nucleotide exchange factor (GEF) 9Early infantile epileptic encephalopathy
ARXAristaless related homeoboxEarly infantile epileptic encephalopathy
ATP6AP2ATPase, H+ transporting, lysosomal accessory protein 2Epilepsy with XLMR*
ATRXAlpha thalassemia/mental retardation syndrome X-linkedEpilepsy with XLMR*
CASKCalcium/calmodulin-dependent serine protein kinase (MAGUK family)Mental retardation and microcephaly
CDKL5Cyclin-dependent kinase-like 5Early infantile epileptic encephalopathy
CUL4BCullin 4BEpilepsy with XLMR*
CXORF5Oral-facial-digital syndrome 1Simpson-Golabi-Behmel syndrome
DCXDoublecortinLissencephaly
FGD1FYVE, RhoGEF and PH domain containing 1Aarskog-Scott syndrome
GPC3Glypican 3Simpson-Golabi-Behmel syndrome
GRIA3Glutamate receptor, ionotrophic, AMPA 3Epilepsy with XLMR*
HSD17B10Hydroxysteroid (17-beta) dehydrogenase 10Epilepsy with XLMR*
JARID1CLysine (K)-specific demethylase 5CEpilepsy with XLMR*
OPHN1Oligophrenin 1Epilepsy with XLMR*
PAK3P21 protein (Cdc42/Rac)-activated kinase 3Epilepsy with XLMR*
PHF6PHD finger protein 6Borjeson Forssmann Lehmann syndrome
PLP1Proteolipid protein 1Pelizaeus-Merzbacher disease
PQBP1Polyglutamine binding protein 1Epilepsy with XLMR*
RAB39BRAB39B, member RAS oncogene familyEpilepsy with XLMR*
SLC9A6Solute carrier family 9 (sodium/hydrogen exchanger), member 6Angelman-Like syndrome
SMC1AStructural maintenance of chromosomes 1ACornelia De Lange syndrome
SMSSpermine synthaseEpilepsy with XLMR*
SRPX2Sushi-repeat containing protein, X-linked 2Rolandic epilepsy
SYPSynaptophysinEpilepsy with XLMR*
*XLMR: X-linked mental retardation
(b) Joubert syndrome (10 genes)
AHI1Abelson helper integration site 1Joubert syndrome
ARL13BADP-ribosylation factor-like 13BJoubert syndrome
CC2D2ACoiled-coil and C2 domain containing 2AJoubert syndrome
CEP290Centrosomal protein 290 kDaJoubert syndrome
CXORF5Oral-facial-digital syndrome 1Joubert syndrome
INPP5EInositol polyphosphate-5-phosphatase, 72 kDaJoubert syndrome
NPHP1Nephronophthisis 1 (juvenile)Joubert syndrome
RPGRIP1LRetinitis pigmentosa GTPase regulator interacting protein 1 likeJoubert syndrome
TMEM67Transmembrane protein 67Joubert syndrome
TMEM216Transmembrane protein 216Joubert syndrome
(c) Lissencephaly and polymicrogyria (18 genes)
COL18A1Collagen, type XVIII, alpha 1Polymicrogyria
CPT2Carnitine palmitoyltransferase 2Polymicrogyria
DCXDoublecortinLissencephaly
EOMESEomesoderminPolymicrogyria
FGFR3Fibroblast growth factor receptor 3Polymicrogyria
FLNAFilamin A, alphaPeriventricular heterotopia
GPR56G protein-coupled receptor 56Polymicrogyria
PAFAH1B1Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)Lissencephaly
PAX6Paired box 6Polymicrogyria
PEX7Peroxisomal biogenesis factor 7Polymicrogyria
RAB3GAP1RAB3 GTPase activating protein subunit 1 (catalytic)Warburg microsyndrome
RELNReelinLissencephaly
SNAP29Synaptosomal-associated protein, 29 kDaCerebral dysgenesis
SRPX2Sushi-repeat containing protein, X-linked 2Rolandic epilepsy
TUBA1ATubulin, alpha 1aLissencephaly
TUBA8Tubulin, alpha 8 Polymicrogyria
TUBB2BTubulin, beta 2BPolymicrogyria
VDAC1Voltage-dependent anion channel 1Polymicrogyria
 (d) Severe microcephaly and pontocerebellar hypoplasia (22 genes)
ASPMAsp (abnormal spindle) homolog, microcephaly associated (Drosophila)Microcephaly
ATRAtaxia telangiectasia and Rad3 relatedMicrocephaly
BUB1BBudding uninhibited by benzimidazoles 1 homolog beta (yeast)Microcephaly
CASKCalcium/calmodulin-dependent serine protein kinase (MAGUK family)Microcephaly
CDK5RAP2 [Microcephaly]CDK5 regulatory subunit associated protein 2Microcephaly
CENPJCentromere protein JMicrocephaly
CEP152Centrosomal protein 152 kDaMicrocephaly
LIG4Ligase IV, DNA, ATP-dependentMicrocephaly
MCPH1Microcephalin 1Microcephaly
MED17Mediator complex subunit 17Microcephaly
NHEJ1Nonhomologous end-joining factor 1Microcephaly
PCNTPericentrinMicrocephalic osteodysplastic Dwarfism
PNKPPolynucleotide kinase 3'-phosphataseMicrocephaly
PQBP1Polyglutamine binding protein 1X-linked mental retardation
RARS2Arginyl-tRNA synthetase 2, mitochondrialPontocerebellar hypoplasia
SLC25A19Solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19Microcephaly
STILSCL/TAL1 interrupting locusMicrocephaly
TSEN2tRNA splicing endonuclease 2 homolog (S. cerevisiae)Pontocerebellar hypoplasia
TSEN34 [Pontocerebellar Hypoplasia]tRNA splicing endonuclease 34 homolog (S. cerevisiae)Pontocerebellar hypoplasia
TSEN54 [Pontocerebellar Hypoplasia]tRNA splicing endonuclease 54 homolog (S. cerevisiae)Pontocerebellar hypoplasia
VRK1Vaccinia related kinase 1Pontocerebellar hypoplasia
WDR62WD repeat domain 62Microcephaly, cortical malformations
and mental retardation
 (e) Walker-Warburg syndrome (WWS) or muscle, eye and brain disease (6 genes) anomalies type A2 (MDDGA2)
FKRPFukutin-related proteinWalker-Warburg syndrome
FKTNFukutinWalker-Warburg syndrome
LARGELike-glycosyltransferaseWalker-Warburg syndrome
POMGNT1Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferaseWalker-Warburg syndrome
POMT1Protein-O-mannosyltransferase 1Walker-Warburg syndrome
POMT2Protein-O-mannosyltransferase 2Walker-Warburg Syndrome
  (f) Holoprosencephaly (HPE) (8 genes)
FGF8Fibroblast growth factor 8 (androgen-induced)Holoprosencephaly
GLI2GLI family zinc finger 2Holoprosencephaly 9
GLI3GLI family zinc finger 3Greig cephalopolysyndactyly syndrome
PTCH1patched 1Holoprosencephaly 7
SHHSonic HedgehogHoloprosencephaly 3
SIX3SIX homeobox 3Holoprosencephaly 2
TGIF1TGFB-induced factor homeobox 1Holoprosencephaly 4
ZIC2Zic family member 2Holoprosencephaly 5