Condition: Electroencephalogram abnormal


rs1057519464 in HEXA gene and Electroencephalogram abnormal PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

PMID 1532289 1992 Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.

PMID 22723944 2012 Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PMID 27896118 2014 Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease.

rs113994095 in POLG;MIR6766 gene and Electroencephalogram abnormal PMID 21993618 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

PMID 22006280 2011 Bowel obstruction in patients with Alpers-Huttenlocher syndrome.

PMID 21235791 2011 Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

PMID 20837861 2010 POLG1 variations presenting as multiple sclerosis.

PMID 15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.

PMID 21647632 2012 MELAS/SANDO overlap syndrome associated with POLG1 mutations.

PMID 21515089 2011 Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

PMID 22189570 2012 Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

PMID 15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

PMID 16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 20691285 2011 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.

PMID 22616202 2011 Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

PMID 19813183 2010 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

PMID 18500570 2008 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.

PMID 16368709 2006 Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.

PMID 19538466 2011 Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.

PMID 18783964 2009 Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.

PMID 15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

PMID 21686371 2009 Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).

PMID 23430834 2011 Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.

PMID 19501198 2009 De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

PMID 24725338 2014 Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

PMID 11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

PMID 22931735 2012 Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?

PMID 20576279 2010 [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].

PMID 23212759 2013 POLG mutation presenting with late-onset jerky torticollis.

PMID 27987238 2017 Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.

PMID 23783014 2013 Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.

PMID 26104464 2016 The spectrum of epilepsy caused by POLG mutations.

PMID 20138553 2010 POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

PMID 18546343 2008 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.

PMID 19766516 2010 Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.

PMID 22342071 2012 Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

PMID 23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

PMID 25286830 2014 Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

PMID 26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

PMID 28771251 2018 Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

PMID 29588995 2018 The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

PMID 24272679 2014 Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.