J Med Genet. 2010 Mar, .  et al. 0

Thienpont B

Myers SJ, .  et al. 0

Hongjie Y

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respectively), .  et al. 0

but not for epilepsy occurrence. SIGNIFICANCE: Various mutations in the MECP2 gene have a different influence on epilepsy

Frédéric, .  et al. 0

Marie-Thérèse; Barcia

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;04/08/2025 08:04;04/08/2025 08:04;;1394-1398;;12;80;;J Neurol Neurosurg Psychiatry;;;;;;;;eng;;;;;;;Place: England PMID: 19917821

J Med Genet. 2010 Feb, .  et al. 0

Mignon-Ravix C

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Alcaraz G, .  et al. 0

Michon FX

Julitta, .  et al. 0

Nathalie; Cacciagli

regulation of the complement way, .  et al. 0

and co-receptor in transduction signal. Children suffering from this condition exhibit developmental delay with early-onset epilepsy

pharmacological interventions can be envisaged to try to counteract the deficits observed. Here, .  et al. 0

we review the available human and mouse data and present how they have been and could be used in the development of pharmacological treatments for children affected by the syndrome. Given our current knowledge and the tools available

J Med Genet. 2010 Jan, .  et al. 0

Mencarelli MA

Huh L, .  et al. 0

Lesca G

André-Obadia N, .  et al. 0

Cacciagli P

affected with infantile-onset myoclonic epilepsy. The peculiar epileptic presentation prompted us to perform direct sequencing of the TBC1D24 gene. The patients had very early onset of focal myoclonic fits with variable topography, .  et al. 0

lasting a few minutes to several hours

, .  et al. 0

which is mutated or deleted in Rubinstein-Taybi syndrome. In 10 out of the 12 hitherto described probands, .  et al. 0

the duplication arose de novo. CONCLUSIONS: Interstitial 16p13.3 duplications have a recognizable phenotype

Gene Expr Patterns. 2009 Sep, .  et al. 0

Cantagrel V

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