Developmental And Epileptic Encephalopathy 38

Alternative Names

  • DEE38
  • Glycosylphosphatidylinositol Biosynthesis Defect 23
  • GPIBD23
  • Epileptic Encephalopathy, Early Infantile, 38
  • EIEE38
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WHO-ICD-10 version:2010

Diseases of the nervous system

Episodic and paroxysmal disorders

OMIM Number

617020

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q42.2

Description

Developmental and epileptic encephalopathy-38 (DEE38) is an autosomal recessive neurologic and neurodegenerative disorder characterized by the onset of various type of seizures usually between about 4 and 7 months of age. Prior to the onset of seizures, most infants show severely impaired global development, hypotonia with poor head control, and visual inattention with roving eye movements and nystagmus. Seizures are usually refractory to treatment and associated with status epilepticus. Patients have little or no development with inability to walk or speak, spasticity or abnormal movements, and often cortical blindness. There is failure to thrive, and many require tube-feeding. Death in early childhood due to aspiration or intractable epilepsy may occur. The disorder is associated with a defect in GPI-anchoring of membrane-bound proteins. [from OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
617020.1.1Saudi ArabiaMaleYesYes Epileptic encephalopathy; Intellectual...NM_022786.2:c.565G>AHomozygousAutosomal, RecessiveAlazami et al. 2015 Second cousin of pat...
617020.1.2Saudi ArabiaMaleYesYes Epileptic encephalopathy; Intellectual...NM_022786.2:c.565G>AHomozygousAutosomal, RecessiveAlazami et al. 2015
617020.1.3Saudi ArabiaFemaleYesYes Epileptic encephalopathy; Intellectual...NM_022786.2:c.565G>AHomozygousAutosomal, RecessiveAlazami et al. 2015
617020.2.1LebanonFemaleNoYes Irritability; Abnormal involuntary eye ...NM_022786.2:c.294+1G>AHomozygousAutosomal, RecessivePalmer et al. 2016 Maternal grandmother...
617020.3.1LebanonFemaleYesYes Death in childhood; Epileptic encephalo...NM_022786.2:c.294+1G>AHomozygousAutosomal, RecessiveDavids et al. 2020 Proband
617020.3.2LebanonFemaleYesYes Death in childhood; Epileptic encephalo...NM_022786.2:c.294+1G>AHomozygousAutosomal, RecessiveDavids et al. 2020 Sister of patient 61...
617020.3.3LebanonFemaleYesYes Death in childhood; Epileptic encephalo...NM_022786.2:c.294+1G>AHomozygousAutosomal, RecessiveDavids et al. 2020 Cousin of patient 61...
617020.3.4LebanonMaleYesYes Death in childhood; Epileptic encephalo...NM_022786.2:c.294+1G>AHomozygousAutosomal, RecessiveDavids et al. 2020 Cousin of patient 61...
617020.3.5LebanonMaleYesYes Death in childhood; Epileptic encephalo...NM_022786.2:c.294+1G>AHomozygousAutosomal, RecessiveDavids et al. 2020 Cousin of patient 61...
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