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Article

Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report.

BMC psychiatry - 2 Aug 2018

Nickel Kathrin, Tebartz van Elst Ludger, Domschke Katharina, Gläser Birgitta, Stock Friedrich, Endres Dominique, Maier Simon, Riedel Andreas

Abstract excerpt

BACKGROUND: Mutations in voltage-gated sodium channel (SCN) genes are supposed to be of importance in the etiology of psychiatric and neurological diseases, in particular in the etiology of seizures. Previous studies report a potential susceptibility region at the chromosomal locus 2q including SCN1A, SCN2A and SCN3A genes for autism spectrum disorder (ASD). To date, there is no previous description of a patient...

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Source

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Identifiers

PMID: 30071822
DOI: 10.1186/s12888-018-1822-8
PMCID: PMC6090917

Genes

GRB14

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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