Article
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
European journal of human genetics : EJHG - 1 Mar 2022
Schröter Julian, Popp Bernt, Brennenstuhl Heiko, Döring Jan H, Donze Stephany H, Bijlsma Emilia K, van Haeringen Arie, Huhle Dagmar, Jestaedt Leonie, Merkenschlager Andreas, Arelin Maria, Gräfe Daniel, Neuser Sonja, Oates Stephanie, Pal Deb K, Parker Michael J, Lemke Johannes R, Hoffmann Georg F, Kölker Stefan, Harting Inga, Syrbe Steffen
Abstract excerpt
TUBA1A tubulinopathy is a rare neurodevelopmental disorder associated with brain malformations as well as early-onset and intractable epilepsy. As pathomechanisms and genotype-phenotype correlations are not completely understood, we aimed to provide further insights into the phenotypic and genetic spectrum. We here present a multicenter case series of ten unrelated individuals from four European countries using...
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