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Roux JC

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Nathalie, .  et al. 0

Caroline; Abidi

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

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

at least in the tissue tested. Our data suggest that FER is not implicated in the mental retardation phenotype observed in the reported patient. Therefore the MR phenotype might not be caused by the translocation.", .  et al. 0

Hum Mutat. 2007 Dec, .  et al. 0

Moncla A

Campeau PM, .  et al. 0

Davidson C

Vinet MC, .  et al. 0

Jonveaux P

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found in all 5 patients with GOF variants, .  et al. 0

is characterized by intractable seizures

and bilateral PH in the walls of the temporal horns of the lateral ventricles, .  et al. 0

associated with a de novo deletion of the 5q14.3-15 region. We used microarray-based comparative genomic hybridization to define the boundaries of the deletions. RESULTS: The three patients shared a common deleted region spanning 5.8 Mb and containing 14 candidate genes. CONCLUSION: We identified a new syndrome featuring bilateral periventricular heterotopia (PH)

Eur J Neurosci. 2007 Apr, .  et al. 0

Roux JC

Ichikawa S, .  et al. 0

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Ville D

and normal head growth. In addition, .  et al. 0

we constantly found an ongoing moderate to severe developmental delay with normal head growth. Patients often had ongoing ataxic gait with trembling gestures. Altogether these features should help the clinician to consider STXBP1 molecular screening.;2015-12;07/03/2016 15:10;23/06/2020 08:43;;1931-1940;;12;56;;Epilepsia;Epileptic patients with de novo STXBP1 mutations;;;;;;;ENG;;;;;PubMed;;PMID: 26514728

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Cornel; Missirian

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Béatrice; Villeneuve