L., .  et al. 0

A. M.; Chelly

the phenotype was clinically relevant with regard to the literature, .  et al. 0

which prompted to sequence the second allele

hypotonia, .  et al. 0

functional gastrointestinal abnormalities

, .  et al. 0

, .  et al. 0

, .  et al. 0

, .  et al. 0

Haymowicz M, .  et al. 0

Welborn R

L., .  et al. 0

M.; Kinnon

Nathalie, .  et al. 0

Louis; Ville

the majority of CDKL5-mutated patients with the early-onset seizure variant, .  et al. 0

and the majority of FOXG1-mutated patients with the congenital form. A computation of severity scores further revealed significant differences between groups of patients and correlation with mutation types. The highly detailed phenotypic information contained in the

Font, .  et al. 0

Colleaux L. "Gene. 1999 Jul 22;235(1-2):43-50. doi: 10.1016/s0378-1119(99)00217-6." Villard L Gene 1999 23/07/1999 10.1016/s0378-1119(99)00217-6

G., .  et al. 0

L.; Stayton

our patients confirm that ATP1A3 mutations are associated with a phenotype combining features of early-onset encephalopathy, .  et al. 0

epilepsy and dystonic fits

, .  et al. 0

Giovanucci-Uzielli ML, .  et al. 0

Demidova IA

as well as the expression in human tissues, .  et al. 0

suggests that this gene might be involved in neuronal differentiation. Among the different morbid phenotypes assigned to the region

, .  et al. 0

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

Villard L, .  et al. 0

Demidova IA