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Article

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.

Journal of medical genetics - 1 Jun 2022

Yigit Gökhan, Sheffer Ruth, Daana Muhannad, Li Yun, Kaygusuz Emrah, Mor-Shakad Hagar, Altmüller Janine, Nürnberg Peter, Douiev Liza, Kaulfuss Silke, Burfeind Peter, Wollnik Bernd, Brockmann Knut

Abstract excerpt

BACKGROUND: Developmental and epileptic encephalopathies (DEEs) represent a group of severe neurological disorders characterised by an onset of refractory seizures during infancy or early childhood accompanied by psychomotor developmental delay or regression. DEEs are genetically heterogeneous with, to date, more than 80 different genetic subtypes including DEE31 caused by heterozygous missense variants in DNM1....

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Identifiers

PMID: 34172529
DOI: 10.1136/jmedgenet-2021-107769
PMCID: PMC9132866

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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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