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Article

Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts.

Annals of neurology - 1 Mar 2018

Dubey Mohit, Brouwers Eelke, Hamilton Eline M C, Stiedl Oliver, Bugiani Marianna, Koch Henner, Kole Maarten H P, Boschert Ursula, Wykes Robert C, Mansvelder Huibert D, van der Knaap Marjo S, Min Rogier

Abstract excerpt

OBJECTIVE: Loss of function of the astrocyte-specific protein MLC1 leads to the childhood-onset leukodystrophy "megalencephalic leukoencephalopathy with subcortical cysts" (MLC). Studies on isolated cells show a role for MLC1 in astrocyte volume regulation and suggest that disturbed brain ion and water homeostasis is central to the disease. Excitability of neuronal networks is particularly sensitive to ion and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29466841
DOI: 10.1002/ana.25190
PMCID: PMC5900999

Genes

MLC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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