A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster-Reference-Cited by-同舟云学术

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

Published:2022-04 Issue: Volume:97 Page:20-22
ISSN:1059-1311
Container-title:Seizure
language:en
Short-container-title:Seizure

Author:

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

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology,General Medicine

Reference5 articles.

1. Histone lysine methylases and demethylases in the landscape of human developmental disorders;Faundes;Am J Hum Genet,2018

2. Quantifying the contribution of recessive coding variation to developmental disorders;Martin;Science,2018

3. Novel KDM5B splice variants identified in patients with developmental disorders: functional consequences;Lebrun;Gene,2018

4. 2q24-q31 deletion: report of a case and review of the literature;Pescucci;Eur J Med Genet,2007

5. Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: migrating partial seizures of infancy or atypical Dravet syndrome?;Lim;Epilepsy Res,2015

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1. A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants;Genes;2024-08-06

2. A unified genome constraint, pathogenicity, and pLoF model identifies new genes associated with epilepsy;2024-06-28

3. Deficiency of the histone lysine demethylase KDM5B causes autism-like phenotypes via increased NMDAR signalling;2024-05-29

4. The Intellectual Disability Risk GeneKdm5bRegulates Long-Term Memory Consolidation in the Hippocampus;The Journal of Neuroscience;2024-04-04

5. Carbamazepine/valproic acid;Reactions Weekly;2023-04-29

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