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Article

Exome Sequencing in an ADSHE Family: VUS Identification and Limits.

International journal of environmental research and public health - 1 Oct 2022

Villa Chiara, Arrigoni Federica, Rivellini Eleonora, Lavitrano Marialuisa, De Gioia Luca, Ferini-Strambi Luigi, Combi Romina

Abstract excerpt

Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is the familial form of a focal epilepsy characterized by hyperkinetic focal seizures, mainly arising during non-rapid eye movements (NREM) sleep. Mutations associated with ADSHE account for a small proportion of the genetically determined cases, suggesting the existence of other disease-causing genes. Here, we reported the results obtained by...

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Identifiers

PMID: 36231847
DOI: 10.3390/ijerph191912548
PMCID: PMC9565017

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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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