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ASPM mutations identified in patients with primary microcephaly and seizures

1 Sept 2005

Abstract excerpt

BACKGROUND: 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...

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Identifiers

PMID: 16141009
DOI: 10.1136/jmg.2004.027706

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ASPM mutations identified in patients with primary microcephaly and seizuresPMID 16141009Read ↗

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