Table 4.
Epilepsy with mental retardation and brain malformations.
| Gene symbol | Name | Disease |
|---|---|---|
| (a) Mental retardation (25 genes) | ||
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| ARHGEF9 | Cdc42 guanine nucleotide exchange factor (GEF) 9 | Early infantile epileptic encephalopathy |
| ARX | Aristaless related homeobox | Early infantile epileptic encephalopathy |
| ATP6AP2 | ATPase, H+ transporting, lysosomal accessory protein 2 | Epilepsy with XLMR* |
| ATRX | Alpha thalassemia/mental retardation syndrome X-linked | Epilepsy with XLMR* |
| CASK | Calcium/calmodulin-dependent serine protein kinase (MAGUK family) | Mental retardation and microcephaly |
| CDKL5 | Cyclin-dependent kinase-like 5 | Early infantile epileptic encephalopathy |
| CUL4B | Cullin 4B | Epilepsy with XLMR* |
| CXORF5 | Oral-facial-digital syndrome 1 | Simpson-Golabi-Behmel syndrome |
| DCX | Doublecortin | Lissencephaly |
| FGD1 | FYVE, RhoGEF and PH domain containing 1 | Aarskog-Scott syndrome |
| GPC3 | Glypican 3 | Simpson-Golabi-Behmel syndrome |
| GRIA3 | Glutamate receptor, ionotrophic, AMPA 3 | Epilepsy with XLMR* |
| HSD17B10 | Hydroxysteroid (17-beta) dehydrogenase 10 | Epilepsy with XLMR* |
| JARID1C | Lysine (K)-specific demethylase 5C | Epilepsy with XLMR* |
| OPHN1 | Oligophrenin 1 | Epilepsy with XLMR* |
| PAK3 | P21 protein (Cdc42/Rac)-activated kinase 3 | Epilepsy with XLMR* |
| PHF6 | PHD finger protein 6 | Borjeson Forssmann Lehmann syndrome |
| PLP1 | Proteolipid protein 1 | Pelizaeus-Merzbacher disease |
| PQBP1 | Polyglutamine binding protein 1 | Epilepsy with XLMR* |
| RAB39B | RAB39B, member RAS oncogene family | Epilepsy with XLMR* |
| SLC9A6 | Solute carrier family 9 (sodium/hydrogen exchanger), member 6 | Angelman-Like syndrome |
| SMC1A | Structural maintenance of chromosomes 1A | Cornelia De Lange syndrome |
| SMS | Spermine synthase | Epilepsy with XLMR* |
| SRPX2 | Sushi-repeat containing protein, X-linked 2 | Rolandic epilepsy |
| SYP | Synaptophysin | Epilepsy with XLMR* |
| *XLMR: X-linked mental retardation | ||
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| (b) Joubert syndrome (10 genes) | ||
|
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| AHI1 | Abelson helper integration site 1 | Joubert syndrome |
| ARL13B | ADP-ribosylation factor-like 13B | Joubert syndrome |
| CC2D2A | Coiled-coil and C2 domain containing 2A | Joubert syndrome |
| CEP290 | Centrosomal protein 290 kDa | Joubert syndrome |
| CXORF5 | Oral-facial-digital syndrome 1 | Joubert syndrome |
| INPP5E | Inositol polyphosphate-5-phosphatase, 72 kDa | Joubert syndrome |
| NPHP1 | Nephronophthisis 1 (juvenile) | Joubert syndrome |
| RPGRIP1L | Retinitis pigmentosa GTPase regulator interacting protein 1 like | Joubert syndrome |
| TMEM67 | Transmembrane protein 67 | Joubert syndrome |
| TMEM216 | Transmembrane protein 216 | Joubert syndrome |
|
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| (c) Lissencephaly and polymicrogyria (18 genes) | ||
|
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| COL18A1 | Collagen, type XVIII, alpha 1 | Polymicrogyria |
| CPT2 | Carnitine palmitoyltransferase 2 | Polymicrogyria |
| DCX | Doublecortin | Lissencephaly |
| EOMES | Eomesodermin | Polymicrogyria |
| FGFR3 | Fibroblast growth factor receptor 3 | Polymicrogyria |
| FLNA | Filamin A, alpha | Periventricular heterotopia |
| GPR56 | G protein-coupled receptor 56 | Polymicrogyria |
| PAFAH1B1 | Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) | Lissencephaly |
| PAX6 | Paired box 6 | Polymicrogyria |
| PEX7 | Peroxisomal biogenesis factor 7 | Polymicrogyria |
| RAB3GAP1 | RAB3 GTPase activating protein subunit 1 (catalytic) | Warburg microsyndrome |
| RELN | Reelin | Lissencephaly |
| SNAP29 | Synaptosomal-associated protein, 29 kDa | Cerebral dysgenesis |
| SRPX2 | Sushi-repeat containing protein, X-linked 2 | Rolandic epilepsy |
| TUBA1A | Tubulin, alpha 1a | Lissencephaly |
| TUBA8 | Tubulin, alpha 8 | Polymicrogyria |
| TUBB2B | Tubulin, beta 2B | Polymicrogyria |
| VDAC1 | Voltage-dependent anion channel 1 | Polymicrogyria |
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| (d) Severe microcephaly and pontocerebellar hypoplasia (22 genes) | ||
|
| ||
| ASPM | Asp (abnormal spindle) homolog, microcephaly associated (Drosophila) | Microcephaly |
| ATR | Ataxia telangiectasia and Rad3 related | Microcephaly |
| BUB1B | Budding uninhibited by benzimidazoles 1 homolog beta (yeast) | Microcephaly |
| CASK | Calcium/calmodulin-dependent serine protein kinase (MAGUK family) | Microcephaly |
| CDK5RAP2 [Microcephaly] | CDK5 regulatory subunit associated protein 2 | Microcephaly |
| CENPJ | Centromere protein J | Microcephaly |
| CEP152 | Centrosomal protein 152 kDa | Microcephaly |
| LIG4 | Ligase IV, DNA, ATP-dependent | Microcephaly |
| MCPH1 | Microcephalin 1 | Microcephaly |
| MED17 | Mediator complex subunit 17 | Microcephaly |
| NHEJ1 | Nonhomologous end-joining factor 1 | Microcephaly |
| PCNT | Pericentrin | Microcephalic osteodysplastic Dwarfism |
| PNKP | Polynucleotide kinase 3'-phosphatase | Microcephaly |
| PQBP1 | Polyglutamine binding protein 1 | X-linked mental retardation |
| RARS2 | Arginyl-tRNA synthetase 2, mitochondrial | Pontocerebellar hypoplasia |
| SLC25A19 | Solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 | Microcephaly |
| STIL | SCL/TAL1 interrupting locus | Microcephaly |
| TSEN2 | tRNA 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 |
| VRK1 | Vaccinia related kinase 1 | Pontocerebellar hypoplasia |
| WDR62 | WD repeat domain 62 | Microcephaly, cortical malformations and mental retardation |
|
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| (e) Walker-Warburg syndrome (WWS) or muscle, eye and brain disease (6 genes) anomalies type A2 (MDDGA2) | ||
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| FKRP | Fukutin-related protein | Walker-Warburg syndrome |
| FKTN | Fukutin | Walker-Warburg syndrome |
| LARGE | Like-glycosyltransferase | Walker-Warburg syndrome |
| POMGNT1 | Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase | Walker-Warburg syndrome |
| POMT1 | Protein-O-mannosyltransferase 1 | Walker-Warburg syndrome |
| POMT2 | Protein-O-mannosyltransferase 2 | Walker-Warburg Syndrome |
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| (f) Holoprosencephaly (HPE) (8 genes) | ||
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| FGF8 | Fibroblast growth factor 8 (androgen-induced) | Holoprosencephaly |
| GLI2 | GLI family zinc finger 2 | Holoprosencephaly 9 |
| GLI3 | GLI family zinc finger 3 | Greig cephalopolysyndactyly syndrome |
| PTCH1 | patched 1 | Holoprosencephaly 7 |
| SHH | Sonic Hedgehog | Holoprosencephaly 3 |
| SIX3 | SIX homeobox 3 | Holoprosencephaly 2 |
| TGIF1 | TGFB-induced factor homeobox 1 | Holoprosencephaly 4 |
| ZIC2 | Zic family member 2 | Holoprosencephaly 5 |