and neuroimaging data of 17 patients with FHF1-DEE. Sixteen patients had recurrent heterozygous FHF1 missense variants: 14 had the recurrent p.Arg114His variant and two had a novel likely pathogenic variant p.Gly112Ser. The p.Arg114His variant is associated with an earlier onset and more severe phenotype. One patient carried a chromosomal microduplication involving FHF1. Twelve patients carried a de novo variant, .  et al. 0

five (29.5%) inherited from parents with gonadic or somatic mosaicism. Seizure onset was between 1 day and 41 months; in 76.5% it was within 30 days. Tonic seizures were the most frequent seizure type. Twelve patients (70.6%) had drug-resistant epilepsy

Villard L, .  et al. 0

Gecz J

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Pierre, .  et al. 0

Cecile; Lacoste

and imaging phenotype of patients with FHF1-DEE, .  et al. 0

which is characterized by early onset epilepsy with tonic seizures

, .  et al. 0

5

Villard L, .  et al. 0

Font

L., .  et al. 0

A.; Villard

and seizure types. We made genotypic/phenotypic correlation based on epilepsy-associated missense variant localization over the protein. RESULTS: We found 19 patients carrying a de novo mutation of SCN8A, .  et al. 0

representing 3% of our cohort

and perisylvian polymicrogyria. The duplicated segment is intrachromosomal, .  et al. 0

duplicated in mirror and contains two genes: enolase 1 (ENO1) and RERE

M, .  et al. 0

Villard L. "Eur J Med Genet. 2009 Jul-Aug;52(4):211-7. doi: 10.1016/j.ejmg.2009.04.002. Epub 2009 Apr 18." Haddad MR Eur J Med Genet 2009 22/04/2009 10.1016/j.ejmg.2009.04.002

M., .  et al. 0

R.; Gardiner

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microcephaly, .  et al. 0

and intellectual disability? Ravel A

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Aude, .  et al. 0

Rolph; Busa

neuroanatomical studies at different time points, .  et al. 0

and multiple behavioral tests. RESULTS: The Kcnq2(Thr274Met/+) mice are viable and display generalized spontaneous seizures first observed between postnatal day 20 (P20) and P30. In vivo EEG recordings show that the paroxysmal events observed macroscopically are epileptic seizures. The brain of the Kcnq2(Thr274Met/+) animals does not display major structural defects

Gecz J, .  et al. 0

Gedeon A

B., .  et al. 0

A.; Ayrault