Ontology highlight
ABSTRACT:
SUBMITTER: Shen J
PROVIDER: S-EPMC1736131 | biostudies-other | 2005 Sep
REPOSITORIES: biostudies-other
Shen J J Eyaid W W Mochida G H GH Al-Moayyad F F Bodell A A Woods C G CG Walsh C A CA
Journal of medical genetics 20050901 9
<h4>Background</h4>Human autosomal recessive primary microcephaly (MCPH) is a heterogeneous disorder with at least six genetic loci (MCPH1-6), with MCPH5, caused by ASPM mutation, being the most common. Despite the high prevalence of epilepsy in microcephaly patients, microcephaly with frequent seizures has been excluded from the ascertainment of MCPH. Here, we report a pedigree with multiple affected individuals with microcephaly and seizures.<h4>Objective</h4>To identify the gene responsible f ...[more]