Disease - Developmental and epileptic encephalopathy 86
- DefinitionA form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE86 inheritance is autosomal recessive.
- AcronymDEE86
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Browse 1 entry- DALR anticodon-binding domain-containing protein 3 · Gene: DALRD3 · Homo sapiens (Human) · 543 amino acids · Evidence at protein level · Annotation score: 5/5