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and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome

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truncating mutations were exclusively seen in patients with late onset epilepsies and lack of response to sodium channel blockers. Functional characterization of four selected missense mutations using whole cell patch-clamping in tsA201 cells-together with data from the literature-suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function, .  et al. 0

characterized by slowing of fast inactivation

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a group of ESTs corresponding to an as yet uncharacterised gene was mapped to the same critical interval. We hypothesise that the common inversion breakpoint region of the two cases in Xq13.1 may contain a new MRX gene., .  et al. 0

response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy.", .  et al. 0

resulting in the partial deletion of WASF1 in monozygotic twins, .  et al. 0

and three missense variants

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PFMG2025 contributors

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a Caenorhabditis elegans gene similar to the human XNP/ATR-X gene;Gene;;0378-1119;;;We report the characterization of a new Caenorhabditis elegans gene

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