ASPM mutations identified in patients with primary microcephaly and seizures

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 ha...

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Autores principales: Shen, J, Eyaid, W, Mochida, G, Al-Moayyad, F, Bodell, A, Woods, C, Walsh, C
Formato: Artículo
Lenguaje:English
Publicado: BMJ Group 2005
Materias:
Letter to JMG
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736131/
https://ncbi.nlm.nih.gov/pubmed/16141009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.027706
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https://ncbi.nlm.nih.gov/pmc/articles/PMC1736131/
https://ncbi.nlm.nih.gov/pubmed/16141009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.027706

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