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GENATLAS PHENOTYPE
last update : 06-06-2019
Symbol MREES
Location 7q22
Name mental retardation,epileptic encephalopathy, and spasticity
Other name(s)
  • Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination
  • Intellectual developmental disorder with severe speech and ambulation defects
  • Epileptic encephalopathy, early infantile, 76
    • Corresponding gene ACTL6B
    Other symbol(s) DECAM, EIEE76, IDDSSAD
    Main clinical features
  • global developmental delay, epileptic encephalopathy, and spasticity, in recessive form
  • or intellectual disability, ambulation deficits, severe language impairment, hypotonia, Rett-like stereotypies, and minor facial dysmorphisms (wide mouth, diastema, bulbous nose), in dominant form (OMIM: 618470)
    • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder neurology
    neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function ACTL6B dominant mutations identified may be gain of function
    Remark(s) . deficits in ACTL6B lead to a delay in differentiation in early post-mitotic states (PMID: 31031012))
  • a recessive ACTL6B mutation leads to increased association of BRG1 to certain areas of the genome (PMID: 31031012))
  • recessive mutations do not disrupt BAF complex function significantly at all, but instead prevent BAF53B from properly interacting with the other complexes (PMID: 31031012))