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

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Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

P2860

Q54988116-C2E6F3FC-3A2D-4200-9F7C-238A4D8BD475

P2860

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

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http://www.wikidata.org/entity/Q52691846

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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Seizures and disturbed brain p ...... opathy with subcortical cysts.

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Seizures and disturbed brain p ...... opathy with subcortical cysts.

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type

Item

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Seizures and disturbed brain p ...... opathy with subcortical cysts.

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Seizures and disturbed brain p ...... opathy with subcortical cysts.

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prefLabel

Seizures and disturbed brain p ...... opathy with subcortical cysts.

@en

Seizures and disturbed brain p ...... opathy with subcortical cysts.

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P1476

Seizures and disturbed brain p ...... opathy with subcortical cysts.

@en

P2093

Eelke Brouwers

http://www.w3.org/2001/XMLSchema#string

Eline M C Hamilton

http://www.w3.org/2001/XMLSchema#string

Henner Koch

http://www.w3.org/2001/XMLSchema#string

Maarten H P Kole

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Marianna Bugiani

http://www.w3.org/2001/XMLSchema#string

Marjo S van der Knaap

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Mohit Dubey

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Ursula Boschert

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P2860

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations

Biochemical characterization of MLC1 protein in astrocytes and its association with the dystrophin-glycoprotein complex

MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet

Role of astrocytes in epilepsy

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

Conditional knock-out of Kir4.1 leads to glial membrane depolarization, inhibition of potassium and glutamate uptake, and enhanced short-term synaptic potentiation

Analysis of astroglial K+ channel expression in the developing hippocampus reveals a predominant role of the Kir4.1 subunit

A revised Racine's scale for PTZ-induced seizures in rats

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636-649

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scholarly article

P356

10.1002/ANA.25190

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Huibert D. Mansvelder

Rogier Min

Oliver Stiedl

Robert C Wykes

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2018-02-21T00:00:00Z

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29466841

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Megalencephalic leukoencephalopathy with subcortical cysts

P932

5900999

http://www.w3.org/2001/XMLSchema#string

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

about

P2860

P2860

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

description

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type

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P1476

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P2860

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P921

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P1476

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