Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. (Q54594832)

1 June 2018

title

Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. (English)

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2

David Glosser

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author name string

David Roshal

series ordinal

1

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David Glosser

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2

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Andro Zangaladze

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3

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publication date

22 April 2011

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published in

Epilepsy Behavior

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volume

21

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issue

2

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page(s)

206-210

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The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

cites work

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2011.03.003

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2011.03.003

POLG mutations in Alpers syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2011.03.003

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2011.03.003

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2011.03.003

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2011.03.003

Status epilepticus complicating migraine

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2011.03.003

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2011.03.003

Consequences of mutations in human DNA polymerase gamma.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YEBEH.2011.03.003

Voltage-gated sodium channels as therapeutic targets in epilepsy and other neurological disorders.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2011.03.003

10.1016/J.YEBEH.2011.03.003

7 January 2021

Identifiers

DOI

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1 June 2018

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1 June 2018