Developmental and Epileptic Encephalopathy 4

Alternative Names

  • DEE4
  • Epileptic Encephalopathy, Early Infantile, 4
  • EIEE4
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WHO-ICD-10 version:2010

Diseases of the nervous system

Episodic and paroxysmal disorders

OMIM Number

612164

Mode of Inheritance

Autosomal dominant

Gene Map Locus

9q34.11

Description

Developmental and epileptic encephalopathy-4 (DEE4) is a neurologic disorder characterized by the onset of tonic seizures in early infancy (usually in first months of life). In most cases, seizures increase in frequency and become refractory. Affected individuals have profoundly impaired psychomotor development with poor head control, limited or no ability to walk, spastic quadriplegia, and poor or absent speech. Brain imaging may show cortical atrophy and hypomyelination. EEG studies in the more severe cases show a burst-suppression pattern, consistent with a clinical diagnosis of Ohtahara syndrome, and/or hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Less severely affected individuals have later onset of seizures. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
612164.1United Arab EmiratesFemaleNoNo Global developmental delay; Seizure; Agi...NM_001032221.3:c.1359+1G>AHeterozygousSaleh et al. 2021 de novo mutation
612164.2United Arab EmiratesFemaleYesYes Seizure; Attention deficit hyperactivity...NM_001032221.6:c.1099C>THeterozygousAutosomal, DominantMahfouz et al. 2020
612164.3United Arab EmiratesMaleNo Tonic seizure; Clonic seizure; EEG abnor...NM_001032221.6:c.560C>GHeterozygousDe novoPawar et al. 2023
612164.4United Arab EmiratesMaleNo Myoclonic seizure; EEG abnormality; Auti...NM_001032221.6:c.1651C>THemizygousDe novoPawar et al. 2023
612164.5United Arab EmiratesFemale Focal sensory seizure; EEG abnormality; ...NM_001032221.6:c.1315A>THeterozygousDe novoPawar et al. 2023
612164.6United Arab EmiratesMaleYesYes Infantile spasms; Dyskinesia; Epileptic ...NM_001032221.6:c.910_911delHeterozygousDe novoPawar et al. 2023
612164.7United Arab EmiratesFemaleNoYes Global developmental delay; TremorNM_001032221.6:c.1099C>THeterozygousDe novoPawar et al. 2023
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