Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
about
Claustrum damage and refractory status epilepticus following febrile illness.Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.Calgary score and modified Calgary score in the differential diagnosis between neurally mediated syncope and epilepsy in children.A Data Fusion Approach to Enhance Association Study in Epilepsy.Inherited mitochondrial genomic instability and chemical exposures.Bayesian network and mechanistic hierarchical structure modeling of increased likelihood of developing intractable childhood epilepsy from the combined effect of mtDNA variants, oxidative damage, and copy number.The spectrum of epilepsy caused by POLG mutations.Status epilepticus caused by an unusual encephalopathy.A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation.Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases.
P2860
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P2860
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 28 February 2013
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Prospective study of POLG muta ...... valence and clinical features.
@en
Prospective study of POLG muta ...... valence and clinical features.
@nl
type
label
Prospective study of POLG muta ...... valence and clinical features.
@en
Prospective study of POLG muta ...... valence and clinical features.
@nl
prefLabel
Prospective study of POLG muta ...... valence and clinical features.
@en
Prospective study of POLG muta ...... valence and clinical features.
@nl
P2093
P2860
P356
P1433
P1476
Prospective study of POLG muta ...... evalence and clinical features
@en
P2093
Annie Shrier
Anthony McShane
Anthony O'Rourke
Carl Fratter
Conrad Smith
Frances Cowan
Johanna Uusimaa
Julie Evans
Manisha Narasimhan
Tammy Hedderly
P2860
P304
P356
10.1111/EPI.12115
P577
2013-02-28T00:00:00Z