Ann Clin Transl Neurol. 2017 Dec 27, .  et al. 0

Mancini J

Epilepsy Res. 2023 Jul, .  et al. 0

Brun L

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De Filippis R

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

while three were missense. Three additional patients with BPNH-EDS and a mutation in FLNA are described. No phenotype-genotype correlations could be established, .  et al. 0

but these clinical data sustain the importance of cardiovascular monitoring in FLNA-BPNH patients.;2009-12;07/03/2016 15:16;23/06/2020 08:44;;1394-1398;;12;80;;J. Neurol. Neurosurg. Psychiatry;Bilateral periventricular nodular heterotopia in France;;;;;;;eng;;;;;PubMed;;PMID: 19917821

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Julie; Spiga Ghata

Mondher, .  et al. 0

Anna; Laroche

in a child presenting with ID and an autism spectrum disorder (ASD). The second CNV is a partial deletion of KLHL15, .  et al. 0

in a patient with severe ID

Eur J Paediatr Neurol. 2017 Sep, .  et al. 0

Villeneuve N

J Med Genet. 2023 Oct, .  et al. 0

Abaji M

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Lacoste C

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

each patient in addition displayed a particular clinical and EEG feature: In two patients, .  et al. 0

early seizures were cl

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Neuropathol Appl Neurobiol. 2017 Dec, .  et al. 0

Sauvestre F

Nat Commun. 2022 Nov 2, .  et al. 0

Leitão E