Mutation in the β-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism

CONCLUSIONS: Our study is the first to report a disease-causing variant in the TUBB4A gene in a patient with EE associated with hypomyelinated leucodystrophy. In addition, we expanded the phenotypic spectrum associated with the TUBB4A gene.PMID:37529938 | DOI:10.1002/jdn.10284

Source: International Journal of Developmental Neuroscience - August 2, 2023 Category: Neuroscience Authors: Marwa Ben Jdila Fatma Kammoun Rania Abdelmaksoud-Dammak Chahnez Triki Faiza Fakhfakh Source Type: research