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Article

A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster.

Seizure - 1 Apr 2022

Mangano Giuseppe Donato, Antona Vincenzo, Calì Elisa, Fontana Antonina, Salpietro Vincenzo, Houlden Henry, Veggiotti Pierangelo, Nardello Rosaria

Abstract excerpt

The histone demethylase family plays a key role in chromatin structure and gene regulation during development. Mutations in the genes encoding the lysine demethylase 5 (KDM5) were reported in individuals with many diseases, including neurodevelopmental disorders such as intellectual disability. Recently, KDM5B has been identified as a gene regulator causative of recessive neurodevelopmental disorders. Although...

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PMID: 35278764
DOI: 10.1016/j.seizure.2022.03.001

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