MMG PUBLICATIONS

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Results: 4196  publications found.

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

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, .  et al. 0

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F1000Res. 2018 Mar 26, .  et al. 0

Ehinger Y

10.12688/f1000research.14056.1
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Epilepsia. 2022 Nov, .  et al. 0

Brun L

10.1111/epi.17405
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Ben Zeev B, .  et al. 0

Pineda M

Mari F
Ravn K - issue: Mejaški Bošnjak V - volume: Polgár N - pages: Djuric M.


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...
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C., .  et al. 0

E.; Martins

C.; Faivre
N.; Lacombe - issue: V.; Routon - volume: M.-C.; Toutain - pages: C.; Chassagnon.


tubulin cofactor D (TBCD), .  et al. 0

crucial in microtubule assembly and disassembly. Sequencing of the non-duplicated allele showed a TBCD missense mutation

we propose that genetic
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Ann Clin Transl Neurol. 2017 Dec 27, .  et al. 0

Mancini J

10.1002/acn3.468
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Epilepsy Res. 2023 Jul, .  et al. 0

Brun L

10.1016/j.eplepsyres.2023.107160
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Rondinella D, .  et al. 0

De Filippis R

Chabrol B
- issue: Mari F - volume: Ariani F - pages: Pineda M.


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

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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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Inc., .  et al. 0

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Eur J Hum Genet. 2018 Jan, .  et al. 0

Mortreux J

10.1038/s41431-017-0018-x
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Eur J Hum Genet. 2023 Sep, .  et al. 0

Engel C

10.1038/s41431-023-01410-z
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Fontés M., .  et al. 0

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Najoua, .  et al. 0

Julie; Spiga Ghata

Binnaz; Félix
- issue: a voltage-dependent potassium channel subunit - volume: leading to so-called KCNQ2-related epileptic encephalopathy (KCNQ2-REE). To study the pathophysiology of KCNQ2-REE in detail and to provide a relevant preclinical model - pages: and the most frequently mutated gene is KCNQ2.


Mondher, .  et al. 0

Anna; Laroche

Pierre; Mignon-Ravix
- issue: no cortical malformation on brain magnetic resonance imaging (MRI) - volume: and negat - pages: mostly beginning early in life. To refine the phenotype associated with STXBP1 aberrations in early onset epileptic syndromes.