Developmental and Epileptic Encephalopathy 64

Alternative Names

  • DEE64
  • Epileptic Encephalopathy, Early Infantile, 64
  • EIEE64
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WHO-ICD-10 version:2010

Diseases of the nervous system

Episodic and paroxysmal disorders

OMIM Number

618004

Mode of Inheritance

Autosomal dominant

Gene Map Locus

8p21.3

Description

Developmental and epileptic encephalopathy-64 (DEE64) is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
618004.1United Arab EmiratesFemaleNoNo Seizure; Global developmental delay; Hyp...NM_001160036.1:c.1477G>AHeterozygousSaleh et al. 2021 de novo mutation
618004.2.1Saudi ArabiaFemaleYesYes Global developmental delay; Unsteady gai...NM_015178.3:c.394C>THomozygousAutosomal, RecessiveMaddirevula et al. 2020 Patient had a patern...
618004.2.2Saudi ArabiaFemaleYesYes Global developmental delay; Unsteady gai...NM_015178.3:c.394C>THomozygousAutosomal, RecessiveMaddirevula et al. 2020 Sister of 618004.2.1
618004.2.3Saudi ArabiaFemaleYesYes Global developmental delay; Unsteady gai...NM_015178.3:c.394C>THomozygousAutosomal, RecessiveMaddirevula et al. 2020 Sister of 618004.2.1
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