regulation of the complement way, .  et al. 0

and co-receptor in transduction signal. Children suffering from this condition exhibit developmental delay with early-onset epilepsy

Coy J, .  et al. 0

Odent S

, .  et al. 0

seizures were more frequently observed and intractable, .  et al. 0

and started earlier in males than in females. No correlation was observed between the age at seizure onset and severity of intellectual disability or res

, .  et al. 0

Henderson D, .  et al. 0

Mar

C., .  et al. 0

V.; Chiaroni

, .  et al. 0

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

, .  et al. 0

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