CASK related disorder: Epilepsy and developmental outcome.

doi:10.1016/j.ejpn.2021.02.006

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Article

CASK related disorder: Epilepsy and developmental outcome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2021

Giacomini Thea, Nuovo Sara, Zanni Ginevra, Mancardi Maria Margherita, Cusmai Raffaella, Pepi Chiara, Bertini Enrico, Valente Enza Maria, Battini Roberta, Ferrari Annarita, Romaniello Romina, Zucca Claudio, Borgatti Renato, Uccella Sara, Severino Mariasavina, Striano Pasquale, Pistorio Angela, Prato Giulia, De Grandis Elisa, Nobili Lino, Pisciotta Livia

Abstract excerpt

OBJECTIVE: CASK pathogenic variants are associated with variable features, as intellectual disability, optic atrophy, brainstem/cerebellar hypoplasia, and epileptic encephalopathy. Few studies describe the electroclinical features of epilepsy in patients with CASK pathogenic variants and their relationship with developmental delay. METHODS: this national multicentre cohort included genetically confirmed patients...

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PMID: 33640666
DOI: 10.1016/j.ejpn.2021.02.006

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