Developmental and Epileptic Encephalopathy 31A

Alternative Names

  • DEE31A
  • DEE31
  • Epileptic Encephalopathy, Early Infantile, 31
  • EIEE31

Associated Genes

Dynamin 1
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WHO-ICD-10 version:2010

Diseases of the nervous system

Episodic and paroxysmal disorders

OMIM Number

616346

Mode of Inheritance

Autosomal dominant

Gene Map Locus

9q34.11

Description

Developmental and epileptic encephalopathy-31A (DEE31A) is an autosomal dominant neurologic disorder characterized by the global developmental delay apparent in early infancy. Most individuals have onset of various types of refractory seizures in the first months or years of life, which exacerbates the psychomotor deficits. Patients have hypotonia and profound intellectual disability with absent speech and inability to walk or ataxic gait. Some patients may have additional features, including dysmorphic features or cortical visual impairment. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
616346.1Saudi ArabiaMaleNoNo Seizure; Global developmental delayNM_004408.4:c.127G>AHeterozygousAutosomal, DominantMonies et al. 2017
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