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

Villard L, .  et al. 0

Borgatti R

, .  et al. 0

, .  et al. 0

Lennox-Gastaut not emerging from West syndrome (two patients), .  et al. 0

and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome

Cacciagli P, .  et al. 0

Mortreux J

Elisa, .  et al. 0

Angus; Ben-Zeev

Nathalie, .  et al. 0

Nicola; Cacciagli

truncating mutations were exclusively seen in patients with late onset epilepsies and lack of response to sodium channel blockers. Functional characterization of four selected missense mutations using whole cell patch-clamping in tsA201 cells-together with data from the literature-suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function, .  et al. 0

characterized by slowing of fast inactivation

Dalle C, .  et al. 0

Rastetter A

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 Rett Networked D

without any brain structural abnormality. To be included in the cohort, .  et al. 0

patient's epilepsy should begin before three months of age and be associated with abnormal interictal EEG and neurological impairment. Brain MRI should not show any structural abnormality that could account for the epilepsy. RESULTS: Out of those 71 patients