loading...| Preferred Name |
developmental and epileptic encephalopathy |
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| Synonyms |
infantile epileptic encephalopathy epileptic encephalopathy, early infantile infantile spasm early infantile epileptic encephalopathy early infantile epileptic encephalopathy with suppression-bursts EIEE DEE early infantile epileptic encephalopathy with burst-suppression developmental and epileptic encephalopathy Ohtahara syndrome epileptic encephalopathy, infantile |
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| Definitions |
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. 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0100062 |
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| comment |
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. |
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| creator | ||
| date |
2018-10-10T22:04:15Z |
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| has_exact_synonym |
infantile epileptic encephalopathy epileptic encephalopathy, early infantile infantile spasm early infantile epileptic encephalopathy early infantile epileptic encephalopathy with suppression-bursts EIEE DEE early infantile epileptic encephalopathy with burst-suppression developmental and epileptic encephalopathy Ohtahara syndrome epileptic encephalopathy, infantile |
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| IAO_0000233 | ||
| label |
developmental and epileptic encephalopathy |
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| prefixIRI |
MONDO:0100062 |
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| prefLabel |
developmental and epileptic encephalopathy |
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| textual definition |
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. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015286 http://purl.obolibrary.org/obo/MONDO_0002525 http://purl.obolibrary.org/obo/MONDO_0024321 http://purl.obolibrary.org/obo/MONDO_0005579 http://purl.obolibrary.org/obo/MONDO_0100022 http://purl.obolibrary.org/obo/MONDO_0100038 |