Developmental and Epileptic Encephalopathy 65 (DEE65)

External Ids:

Disease Ontology 12 DOID:0080430 OMIM® 57 618008 OMIM Phenotypic Series 57 PS308350

MeSH 44 D013036 MedGen 41 C4693925 CN248516 SNOMED-CT via HPO 68 128613002 221360009 246545002 263681008 278849000 28055006 313307000 397790002 418143002 52522001 84757009 86854008 91175000 95646004 more

UniProtKB/Swiss-Prot : ⁷³ Epileptic encephalopathy, early infantile, 65: A form of epileptic encephalopathy, a heterogeneous group of severe childhood 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. EIEE65 is an autosomal dominant form characterized by onset of intractable seizures usually in the first 6 months of life and severe to profound psychomotor developmental delay.

MalaCards based summary : Developmental and Epileptic Encephalopathy 65, is also known as developmental and epileptic encephalopathy, 65. An important gene associated with Developmental and Epileptic Encephalopathy 65 is CYFIP2 (Cytoplasmic FMR1 Interacting Protein 2). Affiliated tissues include brain, and related phenotypes are spasticity and hyperreflexia

Disease Ontology : ¹² A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has material basis in heterozygous mutation in the CYFIP2 gene on chromosome 5q33.

OMIM® : ⁵⁷ Developmental and epileptic encephalopathy-65 (DEE65) is characterized by onset of intractable seizures of various types usually within the first months or years of life, severe to profound psychomotor developmental delay, and mild facial dysmorphism (summary by Nakashima et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618008) (Updated 05-Mar-2021)

Clinical features from OMIM®:

618008 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 65

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 65.