rs1562846694 in ACTL6B;TFR2 gene and Seizures

PMID 31134736 2019 Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

rs121912707 in ALDH7A1 gene and Seizures

PMID 16491085 2006 Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

PMID 17068770 2007 Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

PMID 19128417 2009 Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.

PMID 20370816 2010 Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.

PMID 22784480 2012 Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.

PMID 22371912 2012 Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy.

PMID 29056246 2017 Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

PMID 26224730 2015 Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.

rs398122394 in ALG13 gene and Seizures

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

rs387907144 in ARID1B gene and Seizures

PMID 26350204 2015 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

rs1057516032 in ATP1A3 gene and Seizures

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs184953805 in ATRIP;TREX1;ATRIP-TREX1 gene and Seizures

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs397507476 in BRAF gene and Seizures

PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

rs1287121256 in CAMK2A gene and Seizures

PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1554386687 in CAMK2B gene and Seizures

PMID 29100089 2017 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

rs1566446604 in CHD8 gene and Seizures

PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

rs28931591 in CHRNA4 gene and Seizures

PMID 10643924 2000 Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family.

PMID 12887446 2003 Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy.

PMID 22883468 2013 Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy.

PMID 10563623 1999 A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.

PMID 22036597 2012 Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.

PMID 19020039 2008 Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype.

PMID 21753767 2011 Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation.

PMID 14623738 2003 A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.

PMID 11904236 2002 Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes.

rs104894483 in CLN6 gene and Seizures

PMID 11791207 2002 Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.

PMID 12673792 2003 Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

rs141970897 in CRAT gene and Seizures

PMID 31448845 2020 CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.

rs1556424691 in CYTB;ND6;TRNT gene and Seizures

PMID 29760464 2018 CO₂-sensitive tRNA modification associated with human mitochondrial disease.

PMID 22638997 2012 New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.

PMID 8511015 1993 Mitochondrial disorder associated with newborn cardiopulmonary arrest.

PMID 30236074 2018 Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.

rs1057519565 in DEAF1 gene and Seizures

PMID 28940898 2017 Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

PMID 28213671 2017 Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

rs587776973 in DEPDC5 gene and Seizures

PMID 23869883 2013 Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified.

PMID 26000329 2015 Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

PMID 23542697 2013 Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

PMID 27066554 2015 Epileptic spasms are a feature of DEPDC5 mTORopathy.

rs797044519 in DYRK1A gene and Seizures

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs797044525 in DYRK1A;LOC105372797 gene and Seizures

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs758723288 in ECHS1 gene and Seizures

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1555883505 in EEF1A2 gene and Seizures

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs869320624 in EMC1-AS1;EMC1 gene and Seizures

PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

PMID 26942288 2016 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

rs1064795104 in EXOC6B gene and Seizures

PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.

PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.

rs587780315 in FBXL3;CLN5 gene and Seizures

PMID 20157158 2010 CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.

rs772037717 in FBXL4 gene and Seizures

PMID 27182039 2016 A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

rs1553798675 in FGF12 gene and Seizures

PMID 27872899 2016 De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

rs558269137 in FLG;FLG-AS1 gene and Seizures

PMID 16444271 2006 Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

rs878853280 in FRRS1L gene and Seizures

PMID 27236917 2016 Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

rs587777308 in GABRA1 gene and Seizures

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

rs397514737 in GABRG2 gene and Seizures

PMID 25730860 2015 Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 25726841 2015 Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

rs752746786 in GNB1 gene and Seizures

PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs1057519463 in HEXA gene and Seizures

PMID 23852624 2014 Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.

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

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

PMID 9150157 1997 Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

rs1555889162 in KCNB1;LOC105372649 gene and Seizures

PMID 28252636 2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

PMID 29264397 2017 Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

rs118192226 in KCNQ2 gene and Seizures

PMID 20119593 2010 The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.

PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 14534157 2003 KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 6476007 1984 Familial neonatal and infantile seizures: an autosomal-dominant disorder.

PMID 23360469 2013 Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

PMID 24375629 2014 Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

PMID 21937445 2011 A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 25740509 2015 Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

PMID 17475800 2007 Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.

PMID 25959266 2015 Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

PMID 26138355 2016 Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

PMID 24586341 2014 Adult mice homozygous for Y284C, heretofore unexamined in animals, presented with spontaneous seizures, whereas A306T homozygotes died early.

PMID 8327138 1993 Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

PMID 9872318 1998 Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.

PMID 9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PMID 18483067 2008 Adult Kcnq2(A306T/+) and Kcnq3(G311V/+) heterozygous knock-in mice exhibited reduced thresholds to electrically induced seizures compared to wild-type littermate mice.

PMID 19453707 2009 Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs796052653 in KCNQ2;LOC105372724 gene and Seizures

PMID 25959266 2015 Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

rs1564367605 in KCNT1 gene and Seizures

PMID 26140313 2015 De novo KCNT1 mutations in early-onset epileptic encephalopathy.

PMID 28488083 2017 Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

PMID 26740507 2016 KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.

rs672601368 in KIF1A gene and Seizures

PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs724159949 in LOC105372797;DYRK1A gene and Seizures

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs869320713 in LOC107984190;ZMYND11 gene and Seizures

PMID 25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.

rs28934906 in MECP2 gene and Seizures

PMID 10944834 2000 Chronic osteomyelitis in patients with sickle cell disease.

PMID 12065946 2003 Prenatal diagnosis in Rett syndrome.

PMID 19722030 2009 Genotype-phenotype correlation in Brazillian Rett syndrome patients.

PMID 20031356 2010 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients.

PMID 17881312 2008 Homozygosity for MECP2 gene in a girl with classical Rett syndrome.

PMID 17089071 2007 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome.

rs876661308 in MEF2C gene and Seizures

PMID 27255693 2016 MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.

rs267607235 in MFSD8 gene and Seizures

PMID 19277732 2009 Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.

PMID 20826447 2010 Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.

PMID 22668694 2012 Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7.

PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

rs114638163 in MIPEP gene and Seizures

PMID 27799064 2016 MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

rs869312873 in NALCN gene and Seizures

PMID 26923739 2016 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.

rs869312667 in NBEA gene and Seizures

PMID 30269351 2018 NBEA: Developmental disease gene with early generalized epilepsy phenotypes.

rs113994198 in PAFAH1B1 gene and Seizures

PMID 14581661 2003 Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

PMID 11502906 2001 LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.

PMID 10441340 1999 Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.

rs113994094 in POLG gene and Seizures

PMID 25585994 2015 Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease.

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

PMID 23665194 2013 The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders.

PMID 16401742 2006 Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

PMID 12825077 2003 Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

PMID 16621917 2006 Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

PMID 20513108 2010 Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.

PMID 21880868 2011 Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

PMID 19578034 2009 The unfolding clinical spectrum of POLG mutations.

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

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

PMID 26755490 2016 Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation.

PMID 17426723 2007 Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.

PMID 18294203 2008 Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.

PMID 29474836 2019 Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.

PMID 28837072 2017 Understanding the Epilepsy in POLG Related Disease.

PMID 12210792 2002 Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

PMID 16634032 2006 Early-onset familial parkinsonism due to POLG mutations.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 18195151 2008 POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.

PMID 18585914 2008 Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.

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

PMID 21138766 2011 POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.

PMID 18546365 2008 Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

PMID 24091540 2013 Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

PMID 19364868 2009 R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity.

PMID 17436221 2007 Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment.

PMID 23873972 2013 Propofol-related infusion syndrome heralding a mitochondrial disease: case report.

PMID 20185557 2010 mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.

PMID 23208208 2013 Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.

PMID 19752458 2009 Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.

PMID 20803511 2010 POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe.

PMID 20843780 2011 Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

PMID 17280874 2007 Depletion of mtDNA: syndromes and genes.

PMID 23077218 2013 Universal heteroplasmy of human mitochondrial DNA.

PMID 23446635 2013 Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].

PMID 21670405 2011 Novel POLG splice site mutation and optic atrophy.

rs113994095 in POLG;MIR6766 gene and Seizures

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

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

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

PMID 20837861 2010 POLG1 variations presenting as multiple sclerosis.

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

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

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

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

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

PMID 21515089 2011 We describe a 16-year-old woman with a rare POLG1 A467T/W748S genotype, with a wide range of neurological manifestations, including focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory-motor axonal neuropathy, and impairment of visual perception and cognitive function.

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

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

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

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

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

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

PMID 14635118 2003 POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.

PMID 21880868 2011 Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

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

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

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

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

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

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

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

PMID 12565911 2003 Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

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

PMID 22995991 2013 An informatics approach to analyzing the incidentalome.

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

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

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

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

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

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

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

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

rs386834034 in POMGNT1;TSPAN1 gene and Seizures

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs104894718 in SCN1B gene and Seizures

PMID 12486163 2002 Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1.

PMID 12011299 2002 Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

PMID 9461582 1998 Molecular determinants of Na+ channel function in the extracellular domain of the beta1 subunit.

PMID 23527921 2013 Presence of epilepsy-associated variants in large exome databases.

PMID 27277800 2016 The goal of this study was to compare mice heterozygous for Scn1b-C121W (Scn1b(+/W)) with mice heterozygous for the Scn1b-null allele (Scn1b(+/-)) to determine whether the C121W mutation results in loss-of-function in vivo We found that Scn1b(+/W) mice were more susceptible than Scn1b(+/-) and Scn1b(+/+) mice to hyperthermia-induced convulsions, a model of pediatric febrile seizures.

PMID 24567321 2014 Crystal structure and molecular imaging of the Nav channel β3 subunit indicates a trimeric assembly.

PMID 11866477 2002 Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation.

PMID 24747835 2014 Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome.

PMID 22292491 2012 A thermoprotective role of the sodium channel β1 subunit is lost with the β1 (C121W) mutation.

PMID 24623842 2014 GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

PMID 23584539 2013 Functional modulation of voltage-dependent sodium channel expression by wild type and mutated C121W-β1 subunit.

PMID 9539778 1998 Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain.

PMID 9697698 1998 Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

PMID 22425777 2012 Identification of an intra-molecular disulfide bond in the sodium channel β1-subunit.

PMID 14504340 2003 A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.

PMID 17020904 2007 All individuals with confirmed TLE had the C121W mutation; two underwent temporal lobectomy (one with hippocampal sclerosis and one without) and both are seizure free.

PMID 14690046 2003 Membrane proteins with immunoglobulin-like domains--a master superfamily of interaction molecules.

rs145999922 in SLC19A3 gene and Seizures

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs776095655 in SLC2A1 gene and Seizures

PMID 21555602 2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.

PMID 25487684 2015 Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan.

PMID 22976442 2012 Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.

rs1334099693 in SOX4 gene and Seizures

PMID 30661772 2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

rs587784440 in SPTAN1 gene and Seizures

PMID 22656320 2013 Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation.

PMID 25631096 2015 SPTAN1 encephalopathy: distinct phenotypes and genotypes.

rs864309676 in STX7 gene and Seizures

PMID 26395554 2016 Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

rs372949028 in TANGO2 gene and Seizures

PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

rs201257588 in TBC1D24 gene and Seizures

PMID 25169651 2014 DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

PMID 24291220 2014 The genetic basis of DOORS syndrome: an exome-sequencing study.

rs750428882 in TPP1 gene and Seizures

PMID 24091540 2013 Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.

PMID 19038967 2009 Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis.

PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

PMID 19038966 2009 Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Seizures

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs139455627 in TSPEAR gene and Seizures

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rs1569151872 in TSPEAR-AS1;TSPEAR gene and Seizures

PMID 27736875 2016 Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

rs864309661 in WDR45 gene and Seizures

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PMID 23435086 2013 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.