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 disabili - issue: - volume: - pages: .
Agathe, . et al. 0 Florence; Becq we investigated functional consequences and subcellular distribution of the p.V175L mutation of Kv7.2 (Kv7.2(V175L) ) found in a patient presenting EOEE. We observed that the mutation produced a... - issue: - volume: - pages: .
Louis Durand J, . et al. 0 Villard L.;"Epilepsy Res. 2023 Jul;193:107160. doi: 10.1016/j.eplepsyres.2023.107160. Epub 2023 May 3.";Brun L;Epilepsy Res;2023;15/05/2023;;;10.1016/j.eplepsyres.2023.107160 - issue: - volume: - pages: .
Pierre, . et al. 0 Cecile; Lacoste Jean-Michel; Moutton Sophie; Cances - issue: Melanie; Gueden - volume: Sophie; Lesca - pages: Svetlana; Dulac.
improved the lifespan and reduced motor defects, . et al. 0 suggesting a new therapeutic strategy for Rett syndrome.;2012-02;07/03/2016 15:14;23/06/2020 08:43;;786-795;;2;45;;Neurobiol. Dis.;;;;;;;;eng;;;;;PubMed;;PMID: 22127389 - issue: - volume: - pages: .
the phenotype was clinically relevant with regard to the literature, . et al. 0 which prompted to sequence the second allele - issue: - volume: - pages: .
Maroofian R, . et al. 0 Accogli A Bertini E Danhaive O - issue: Cilio MR - volume: Cornet MC - pages: Bubshait DK.
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 - issue: - volume: - pages: .
Pierre, . et al. 0 Cécile; Chabrol neonatal onset epilepsy presenting with severe attacks of apnea that were not initially recognized as seizure since they were not associated with any abnormal movement and since interictal EEG was... - issue: - volume: - pages: .
a mutation that has been very recently described in 7 patients with an early onset epileptic encephalopathy. The initial workup showed a partial deficit of the complex II of the respiratory chain in muscle and liver. The prospective follow-up demonstrated that 2 drugs seemed to be more effective than the others: sodium blocker carbamazepine, . et al. 0 and serotonin reuptake blocker fluoxetine. GABAergic drugs seemed to be ineffective. No drug aggravated the epilepsy. DISCUSSION: This case report contributes to the description of an emerging phenotype for this condition.;2017-09;23/06/2020 08:42;23/06/2020 08:42;;783-786;;5;21;;Eur. J. Paediatr. Neurol.;Heterogeneity of FHF1 related phenotype;;;;;;;eng;;;;;PubMed;;PMID: 28506426 - issue: - volume: - pages: .