Vaugier L, .  et al. 0

Roussel M

Pierre, .  et al. 0

Cecile; Lacoste

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

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

which prompted to sequence the second allele

Maroofian R, .  et al. 0

Accogli A

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

Pierre, .  et al. 0

Cécile; Chabrol

, .  et al. 0

Walsh C, .  et al. 0

Novelli A

, .  et al. 0

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

Brid, .  et al. 0

Volker; Bertoli

Arnaud L, .  et al. 0

Barcia G

Aude, .  et al. 0

Rolph; Busa

Najoua, .  et al. 0

Julie; Spiga Ghata

, .  et al. 0

Vanderhasselt T, .  et al. 0

Villard L

and skeletal anomalies. We report a clinical and molecular study of 39 patients affected by KBG syndrome. Among them, .  et al. 0

19 were diagnosed after the detection of a 16q24.3 deletion encompassing the ANKRD11 gene by array CGH. In the 20 remaining patients

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

and multiple behavioral tests. RESULTS: The Kcnq2Thr274Met/+ 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 Kcnq2Thr274Met/+ animals does not display major structural defects

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;04/08/2025 08:04;04/08/2025 08:04;;783-786;;5;21;;Eur J Paediatr Neurol;;;;;;;;eng;Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.;;;;;;Place: England PMID: 28506426