Developmental and Epileptic Encephalopathy 66 (DEE66)

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Disease Ontology 12 DOID:0080446 OMIM® 57 618067 OMIM Phenotypic Series 57 PS308350

MeSH 44 D013036 MedGen 41 C4748070 CN252658 SNOMED-CT via HPO 68 128602000 128613002 162294008 165397008 165517008 194021007 204878001 22006008 22066006 224958001 228156007 229721007 246545002 246800008 247578003 249321001 253207002 253273004 263681008 271737000 29164008 313307000 38101003 396351009 40159009 563001 57190000 59494005 62415009 82649003 84757009 91138005 91175000 more

OMIM® : ⁵⁷ Developmental and epileptic encephalopathy-66 (DEE66) is a neurologic disorder characterized by the onset of various types of seizures in the first days or weeks of life. Most seizures have focal origins; secondary generalization is common. Seizure control is difficult at first, but may become easier with time. Affected individuals show global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects. Brain imaging often shows cerebellar dysgenesis. A subset of patients have extraneurologic manifestations, including hematologic and distal limb abnormalities (summary by Olson et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618067) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 66, also known as developmental and epileptic encephalopathy, 66, is related to autosomal dominant non-syndromic intellectual disability and neurooculocardiogenitourinary syndrome. An important gene associated with Developmental and Epileptic Encephalopathy 66 is PACS2 (Phosphofurin Acidic Cluster Sorting Protein 2). Related phenotypes are anemia and abnormal cardiac septum morphology

Disease Ontology : ¹² A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has material basis in heterozygous mutation in the PACS2 gene on chromosome 14q32.

UniProtKB/Swiss-Prot : ⁷³ Epileptic encephalopathy, early infantile, 66: 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. EIEE66 is an autosomal dominant form characterized by onset of seizures in first days or weeks of life.

Clinical features from OMIM®:

618067 (Updated 05-Mar-2021)

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Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 66.