Human | EIG3 | 432400 | Epilepsy, idiopathic generalized, susceptibility to 3 | |
Human | NHLRC1 | 378884 | NHL repeat containing 1 | Myoclonic epilepsy, progressive |
Human | EIG2 | 353124 | Epilepsy, idiopathic generalized, susceptibility to 2 | |
Human | MFSD8 | 256471 | major facilitator superfamily domain containing 8 | |
Human | ARX | 170302 | aristaless related homeobox | Disorders caused by mutations in the ARX gene include: hydrocephaly, lissencephaly and agenesis of corpus callosum with abnormal genitalia, Partington syndrome S), X-linked infantile spasms , myoclonic epilepsy, and nonspecific mental retardation A new syndrome of X-linked myoclonic epilepsy with generalized spasticity and intellectual disability in boys (XMESID) has been described and a novel missense mutation (1058C>T) identified in the ARX open reading frame |
Human | KCTD7 | 154881 | potassium channel tetramerization domain containing 7 | |
Human | PRICKLE1 | 144165 | prickle homolog 1 (Drosophila) | INFERRED, Score=800, UMLKSK CUI: C0014550 |
Human | EFHC1 | 114327 | EF-hand domain (C-terminal) containing 1 | |
Human | NDUFAF2 | 91942 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 | |
Human | EFHC2 | 80258 | EF-hand domain (C-terminal) containing 2 | INFERRED, Score=800, UMLKSK CUI: C0014550 |
Human | SLC25A22 | 79751 | solute carrier family 25 (mitochondrial carrier: glutamate), member 22 | Myoclonic seizures, intractable |
Human | C20orf7 | 79133 | | |
Human | GJD2 | 57369 | gap junction protein, delta 2, 36kDa | INFERRED, Score=800, UMLKSK CUI: C0014550 |
Human | NDUFAF4 | 29078 | NADH dehydrogenase (ubiquinone) complex I, assembly factor 4 | |
Human | SLC25A15 | 10166 | solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 | |
Human | EPM2A | 7957 | epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) | Myoclonic epilepsy, progressive |
Human | ALDH5A1 | 7915 | aldehyde dehydrogenase 5 family, member A1 | |
Human | CDKL5 | 6792 | cyclin-dependent kinase-like 5 | Patients with the CDKL5 mutation have an early onset, epileptic encephalopathy in infancy that evolves into myoclonic seizures in childhood with a unique EEG pattern |
Human | SCN8A | 6334 | sodium channel, voltage gated, type VIII, alpha subunit | results demonstrate that genetic interactions can alter seizure severity and support the hypothesis that genetic modifiers contribute to the clinical variability observed in severe myoclonic epilepsy of infancy |
Human | SCN1A | 6323 | sodium channel, voltage-gated, type I, alpha subunit | Click here to display 17 evidence detail records. |
Human | BRD2 | 6046 | bromodomain containing 2 | Present results support evidence that photoparoxysmal response and Myoclonic Epilepsy, Juvenile share epileptogenic pathways, for which BRD2 might be an underlying susceptibility gene |
Human | PRKCD | 5580 | protein kinase C, delta | INFERRED, Score=800, UMLKSK CUI: C0014550 |
Human | POLG | 5428 | polymerase (DNA directed), gamma | INFERRED, Score=800, UMLKSK CUI: C0014550 |
Human | SERPINI1 | 5274 | serpin peptidase inhibitor, clade I (neuroserpin), member 1 | INFERRED, Score=800, UMLKSK CUI: C0014550 |
Human | OPRM1 | 4988 | opioid receptor, mu 1 | |