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Article

Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90.

European journal of medical genetics - 1 Jan 2022

Narayanan Dhanya Lakshmi, Majethia Purvi, Shrikiran Aroor, Siddiqui Shahyan, Dalal Ashwin, Shukla Anju

Abstract excerpt

Developmental and epileptic encephalopathies (DEE) are a genetically heterogeneous group of disorders characterised by early onset epilepsy, epileptiform activity on electroencephalogram and associated developmental delay or neuroregression. With the advent of high throughput sequencing, novel gene-disease associations have been described for DEEs. Voltage activated sodium channels (Nav) regulate neuronal...

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Identifiers

PMID: 34871784
DOI: 10.1016/j.ejmg.2021.104403
PMCID: PMC8918359

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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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