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Article

Expanding the phenotypic spectrum of DNM1-related disorders: novel GTPase domain variants and their diverse neurological outcomes.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2025

Liu Juan, Hu Jihong, Duan Yaqin, Tan Yaqiong, Gao Quwen, Wu Gefei

Abstract excerpt

BACKGROUND: Pathogenic DNM1 variants cause early-onset developmental and epileptic encephalopathy (DEE). The GTPase domain of the DNM1 protein has the most commonly affected sites. AIM: This study aimed to delineate additional patients with DNM1-related disorders harboring novel GTPase domain variants. METHODS: Trio whole-exome sequencing was performed on three Chinese probands with suspected encephalopathy, and...

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Identifiers

PMID: 39954101
DOI: 10.1007/s10072-024-07974-y

Genes

DNM1

Variants

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