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Article

DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.

Seizure - 1 Mar 2018

Kolnikova Miriam, Skopkova Martina, Ilencikova Denisa, Foltan Tomas, Payerova Jaroslava, Danis Daniel, Klimes Iwar, Stanik Juraj, Gasperikova Daniela

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Identifiers

PMID: 29427836
DOI: 10.1016/j.seizure.2018.01.020

Genes

DNM1

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Related research

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DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.PMID 29427836Read ↗

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Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1.Semantic proximity Read ↗

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