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Article

Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome.

International journal of molecular sciences - 23 Jun 2020

Lazo Pedro A, García Juan L, Gómez-Puertas Paulino, Marcos-Alcalde Íñigo, Arjona Cesar, Villarroel Alvaro, González-Sarmiento Rogelio, Fons Carmen

Abstract excerpt

Complex neurodevelopmental syndromes frequently have an unknown etiology, in which genetic factors play a pathogenic role. This study utilizes whole-exome sequencing (WES) to examine four members of a family with a son presenting, since birth, with epileptic-like crises, combined with cerebral palsy, severe neuromotor and developmental delay, dystonic tetraparexia, axonal motor affectation, and hyper-excitability...

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Identifiers

PMID: 32585800
DOI: 10.3390/ijms21124447
PMCID: PMC7352878

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