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GENATLAS PHENOTYPE
last update : 11-06-2019
Symbol NEDNEH
Location 9q34
Name Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
Corresponding gene CACNA1B
Main clinical features
  • epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder
  • postnatal microcephaly and hypotonia
  • early death mainly as a result of secondary respiratory complications
  • seizures (tonic seizures, flexor spasms, and myoclonus) were refractory to medical treatment, and an EEG was consistent with Lennox-Gastaut syndrome
  • hyperkinetic movement disorder, and bulbar dysfunction
    • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function  
    Remark(s)
  • loss-of-function mutations in CACNA1B impair Ca2+ flux and normal synaptic transmission (PMID: 30982612))