期刊
JOURNAL OF PEDIATRIC NEUROLOGY
卷 18, 期 1, 页码 27-32出版社
GEORG THIEME VERLAG KG
DOI: 10.1055/s-0039-1683449
关键词
CHAMP1 Gene; developmental delay; myoclonic epilepsy
类别
The chromosome alignment maintaining phosphoprotein 1 (CHAMP1) gene has a key role in neurodevelopment. It is involved in kinetochore-microtubule attachment and in the regulation of chromosomes alignment during mitosis. So far, 17 cases of CHAMP1 mutations have been reported with a common clinical picture of developmental delay and intellectual disability, dysmorphic facial features, hypotonia and/or spasticity, and microcephaly. Four patients had epilepsy of whom three had focal seizures and one had generalized epilepsy. We report two new cases, which have in addition to developmental delay, refractory myoclonic epilepsy. These cases suggest that the phenotypic spectrum of CHAMP1 mutations may be broader and includes refractory myoclonic epilepsy as well.
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