Saturday, July 14, 2012

Juvenile Myoclonic Epilepsy. Freely available book chapter.

Grisar T, Lakaye B, de Nijs L, LoTurco J, Daga A, Delgado-Escueta AV. Myoclonin1/EFHC1 in cell division, neuroblast migration, synapse/dendrite formation in juvenile myoclonic epilepsy. In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012. PubMed PMID: 22787620.

Genetic analysis in the fly contributed to an understanding of the mechanisms of action of the disease-associated gene. The gene product is noted as unique among a set of genes related to epilepsy, as it appears to be a microtubule-associated protein (MAP) rather than an ion channel.

Direct link to the freely available book chapter here.

Relevant fly genes include: CG8959 a.k.a. Efhc1.1 (FBgn0030691)
Relevant medical terms from the paper include:  "microtubulopathies," juvenile myoclonic epilepsy, and idiopathic/genetic generalized epilepsy.

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