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Epileptic encephalopathy with global cerebral demyelination

Disease definition

Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.

ORPHA:353217

Classification level: Disorder
  • Synonym(s):
    • AGC1 deficiency
    • Mitochondrial aspartate-glutamate carrier 1 deficiency
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: E88.8
  • ICD-11: 5C53.30
  • OMIM: 612949
  • UMLS: C4512050
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.