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Article

Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Feb 2021

Zhang Na, Hou Mei, Ma Shaochun, Liu Yedan, Wei Wei, Chen Zongbo

Abstract excerpt

PURPOSE: To identify the causative variants in two unrelated Chinese patients presenting with epilepsy and deafness. METHODS: The two patients underwent a thorough examination, including brain MRI, EEG and metabolic studies. Next-generation sequencing (NGS) was performed on genomic DNA samples from the siblings and parents. Sanger sequencing was used to confirm the variants. RESULTS: Gene sequencing revealed that...

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Identifiers

PMID: 33063868
DOI: 10.1002/jdn.10070

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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