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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

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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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Élise, .  et al. 0

Béatrice; Villeneuve

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Maria-Isabel; Gecz

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

therapeutic, .  et al. 0

and molecular data from patients with GABA(A) -receptor subunit variants (GABRA1

AM (-35%) of Mecp2-/y mice and to a lesser extent in the PG (-11%) and AM (-18%) in Mecp2+/- mice. We evaluated in vivo the chemoreflex sensitivity of Mecp2-/y mice using whole-body plethysmography to record the breathing of Mecp2-/y mice in normoxia and in response to acute hypoxia (10% O(2)). Our results show that the hypoxic ventilatory response is significantly increased in Mecp2-/y mice (+50%) demonstrating in vivo disturbances of the chemoafferent pathway. In conclusion, .  et al. 0

our results offer new insights to better understand the mechanisms leading to autonomic dysfunction in RS.;05/12/2008;04/08/2025 08:04;04/08/2025 08:04;;82-86;;1;447;;Neurosci Lett;;;;;;;;eng;;;;;;;Place: Ireland PMID: 18834926

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