has characteristic has characteristic idiopathic generalized epilepsy obsolete ARX-related epileptic encephalopathy inherited disorder of GPI anchor biosynthesis neonatal/infantile epilepsy syndrome genetic developmental and epileptic encephalopathy 2018-10-10T22:04:15Z https://github.com/monarch-initiative/mondo/issues/19 https://github.com/monarch-initiative/mondo/issues/3680 https://github.com/monarch-initiative/mondo/issues/8274 https://www.malacards.org/card/developmental_and_epileptic_encephalopathy https://www.malacards.org/card/early_infantile_epileptic_encephalopathy DOID:0112202 ICD9:345.10 developmental and epileptic encephalopathy A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity. MONDO:0100062 Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes. (PMID:26544041, PMID:26704558, PMID:26645412, PMID:26993267, PMID:27476654) GARD:0009255 NANDO:1200593 hereditary developmental and epileptic encephalopathy OMIMPS:308350 NCIT:C122814 Mendelian neurodevelopmental disorder developmental and epileptic encephalopathy