Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

doi:10.1016/j.pediatrneurol.2024.07.010

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Article

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

Pediatric neurology - 1 Nov 2024

Borroto Maria Carla, Patel Heena, Srivastava Siddharth, Swanson Lindsay C, Keren Boris, Whalen Sandra, Mignot Cyril, Wang Xiaodong, Chen Qian, Rosenfeld Jill A, McLean Scott, Littlejohn Rebecca O, Emrick Lisa, Burrage Lindsay C, Attali Ruben, Lesca Gaetan, Acquaviva-Bourdain Cecile, Sarret Catherine, Seaver Laurie H, Platzer Konrad, Bartolomaeus Tobias, Wünsch Cornelia, Fischer Susann, Rodriguez Barreto Ana Maria, Granadillo Jorge L, Schreiner Elisabeth, Brunet Theresa, Schatz Ulrich A, Thiffault Isabelle, Mullegama Sureni V, Michaud Jacques L, Hamdan Fadi F, Rossignol Elsa, Campeau Philippe M

Abstract excerpt

BACKGROUND: GTPases of the Rab family are important orchestrators of membrane trafficking, and their dysregulation has been linked to a variety of neuropathologies. In 2017, we established a causal link between RAB11A variants and developmental and epileptic encephalopathy. In this study, we expand the phenotype of RAB11A-associated neurodevelopmental disorder and explore genotype-phenotype correlations. METHODS:...

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PMID: 39181022
DOI: 10.1016/j.pediatrneurol.2024.07.010

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