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Several new epilepsy genes are discovered with next-generation sequencing. For example, PPRT2 mutations were identified initially in paroxysmal kinesigenic dyskinesia, and are also seen in infantile seizures and febrile seizures. More recently, DEPDC5 mutations were identified in a variety of dominantly-inherited familial focal epilepsies. The precise role of each protein in the central nervous system remains to be determined.

The Epi4K consortium sequenced a cohort of infantile spasms (n = 149) and Lennox-Gastaut syndrome (n = 115). They screened for de novo mutations in patients with two classical epileptic encephalopathies. They found GABRB3 de novo mutations in 4 patients, and ALG13 mutations in two patients. Other genes with de novo mutations included CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR and NEDD4L.

De novo mutations in epileptic encephalopathies.
by the Epi4K Consortium, AS Allen et al. Nature. 2013 Aug 11. doi: 10.1038/nature12439

I'm looking forward to see future studies from that group, especially for the recessive epilepsy genes.

Post by Philippe Campeau, MD

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