POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
about
Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care teamAlpers-Huttenlocher syndromeThe Relationship Between Headaches with Epileptic and Non-epileptic Seizures: a Narrative Review.Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.Acute disseminated encephalomyelitis.Adult-onset leukodystrophies from respiratory chain disorders: do they exist?MELAS with A3243G mutation presenting with occipital status epilepticus.Positivity to p-ANCA in patients with status epilepticus.Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.Magnesium treatment for patients with refractory status epilepticus due to POLG1-mutationsPOLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disordersNonconvulsive status epilepticus: a diagnostic and therapeutic challenge in the intensive care setting.A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.Mitochondrial disease: genetics and management.Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG geneEpilepsy in adults with mitochondrial disease: A cohort study.Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease.Clinical and molecular features of POLG-related mitochondrial disease.Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.Epilepsy in children--when should we think neurometabolic disease?Mitochondrial diseases and epilepsy.Mitochondrial epilepsy in pediatric and adult patients.Migralepsy: a borderland of wavy lines.The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects.Understanding the Epilepsy in POLG Related DiseasePalliative functional hemispherectomy for treatment of refractory status epilepticus associated with Alpers' disease.Monitoring clinical progression with mitochondrial disease biomarkers.Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy.The spectrum of epilepsy caused by POLG mutations.Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease.Status epilepticus caused by an unusual encephalopathy.A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?Myoclonus in mitochondrial disorders.Late-onset of Alpers-Huttenlocher syndrome: an unusual cause of refractory epilepsy and liver failure.Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation.MELAS/SANDO overlap syndrome associated with POLG1 mutations.Mitochondrial function and pathology in status epilepticus
P2860
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P2860
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
name
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
@ast
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
@en
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
@nl
type
label
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
@ast
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
@en
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
@nl
prefLabel
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
@ast
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
@en
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
@nl
P2093
P50
P356
P1433
P1476
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
@en
P2093
Atle Lillebø
Bernt A Engelsen
Bjørn Karlsen
Liv M Laegreid
P304
P356
10.1093/BRAIN/AWN007
P407
P577
2008-01-30T00:00:00Z