Early infantile epileptic encephalopathy

A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.

Neurodegeneration

Progressive loss of neural cells and tissue.


合計: 2

                       


（表示件数）
PMID (PMCID)
19747203
 MALE
A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder.
Absoud M, Parr JR, Halliday D, Pretorius P, Zaiwalla Z, Jayawant S.
Dev Med Child Neurol. 2010;52(3):305-7.
A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder.
19747203
 MALE
A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder.
Absoud M, Parr JR, Halliday D, Pretorius P, Zaiwalla Z, Jayawant S.
Dev Med Child Neurol. 2010;52(3):305-7.
ARX mutation testing should be undertaken in children aged less than 1 year with Ohtahara syndrome and a movement disorder, and in infants with unexplained neurodegeneration, progressive white matter loss, and cortical atrophy.