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https://www.readbyqxmd.com/read/29649454/association-between-scn1a-and-scn2a-mutations-and-clinical-eeg-features-in-chinese-patients-from-epilepsy-or-severe-seizures
#1
Yanting Kong, Kai Yan, Liyuan Hu, Mingbang Wang, Xinran Dong, Yulan Lu, Bingbing Wu, Huijun Wang, Lin Yang, Wenhao Zhou
BACKGROUND: We investigated the association between SCN1A and SCN2A mutations and clinical phenotype and electroencephalography (EEG) features. METHODS: In this study, 48 patients suffered from epilepsy or severe seizures with SCN1A and SCN2A mutations were recruited. Medical data and molecular diagnosis were analyzed. RESULTS: A total of 47 mutations were identified, including 33 novel mutations. The onset of most epilepsy caused by SCN1A mutations (1-6 m) was later than that of SCN2A mutations (neonatal)...
April 9, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29605548/scn1a-rs3812718-polymorphism-is-associated-with-epilepsy-an-updated-meta-analysis
#2
REVIEW
Haiyang Zhi, Changan Wu, Ziqing Yang
To clarify the association between SCN1A rs3812718 polymorphism and epilepsy, we performed an updated meta-analysis. PubMed, Science Direct, Embase, Springer, Google Scholar, and Cochrane databases were searched before January 20, 2018. Odds ratios and 95% confidence intervals were used to assess the strength of associations. Finally, simply eight studies were included in this meta-analysis and all together recruited 7184 individuals, and they consisted of 3595 cases and 3589 controls. Based on the quality evaluation with the NOS, the overall quality of eight studies was scored from seven to eight which indicated good quality...
March 26, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29601086/scn1a-variants-associated-with-sudden-infant-death-syndrome
#3
Catherine A Brownstein, Richard D Goldstein, Christopher H Thompson, Robin L Haynes, Emma Giles, Beth Sheidley, Matthew Bainbridge, Elisabeth A Haas, Othon J Mena, Jonathan Lucas, Bethann Schaber, Ingrid A Holm, Alfred L George, Hannah C Kinney, Annapurna H Poduri
We identified SCN1A variants in 2 infants who died of sudden infant death syndrome (SIDS) with hippocampal abnormalities from an exome sequencing study of 10 cases of SIDS but no history of seizures. One harbored SCN1A G682V, and the other had 2 SCN1A variants in cis: L1296M and E1308D, a variant previously associated with epilepsy. Functional evaluation in a heterologous expression system demonstrated partial loss of function for both G682V and the compound variant L1296M/E1308D. Our cases represent a novel association between SCN1A and SIDS, extending the SCN1A spectrum from epilepsy to SIDS...
April 2018: Epilepsia
https://www.readbyqxmd.com/read/29588980/novel-bandlike-signal-abnormality-suggestive-of-heterotopia-in-patient-with-a-kcnq1-frameshift-mutation
#4
Priyanka Sabharwal, Orrin Devinsky, Timothy M Shepherd
Malformations of cortical development are associated with epilepsy and cognitive dysfunction, and can occur in patients with SCN1A ion channel mutations. We report a novel and subtle bandlike subcortical heterotopia on integrated positron emission tomography-magnetic resonance imaging ( PET-MRI) in a patient with treatment-resistant epilepsy due to a de novo KCNQ1 frameshift mutation. Our case highlights the potential for other channel mutations to cause both epilepsy and cortical malformations. Further scrutiny of high contrast resolution MRI studies is warranted for patients with KCNQ1 and other epilepsy genes to further define their extended phenotype...
December 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29582177/association-between-two-scn1a-polymorphisms-and-resistance-to-sodium-channel-blocking-aeds-a-meta-analysis
#5
Yi Bao, Xinzhu Liu, Zheng Xiao
Sodium channel blocking antiepileptic drugs (SCB-AEDs) are common effective medications available for epilepsy. However, not all patients respond to this regimen and drug resistance is frequently encountered. Rs2298771(c.3184A > G/p.Thr1067Ala) and rs3812718(IVS5N +5G > A) polymorphisms are two of the most common polymorphisms in the SCN1A gene, which is closely related to resistance to SCB-AEDs. Therefore, we have conducted a meta-analysis to investigate the contribution of the two polymorphisms to resistance of SCB-AEDs...
March 26, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29522854/chronic-amyloid-%C3%AE-oligomer-infusion-evokes-sustained-inflammation-and-microglial-changes-in-the-rat-hippocampus-via-nlrp3
#6
Csaba Fekete, Csaba Vastagh, Ádám Dénes, Erik Hrabovszky, Gábor Nyiri, Imre Kalló, Zsolt Liposits, Miklós Sárvári
Microglia are instrumental for recognition and elimination of amyloid β1-42 oligomers (AβO), but the long-term consequences of AβO-induced inflammatory changes in the brain are unclear. Here, we explored microglial responses and transciptome-level inflammatory signatures in the rat hippocampus after chronic AβO challenge. Middle-aged Long Evans rats received intracerebroventricular infusion of AβO or vehicle for 4 weeks, followed by treatment with artificial CSF or MCC950 for the subsequent 4 weeks. AβO infusion evoked a sustained inflammatory response including activation of NF-κB, triggered microglia activation and increased the expression of pattern recognition and phagocytic receptors...
March 6, 2018: Neuroscience
https://www.readbyqxmd.com/read/29500686/variable-epilepsy-phenotypes-associated-with-heterozygous-mutation-in-the-scn9a-gene-report-of-two-cases
#7
Cuiwei Yang, Yi Hua, Weiqin Zhang, Jialu Xu, Lu Xu, Feng Gao, Peifang Jiang
Up to now, SCN9A mutations encoding Nav1.7 have been limited to inherited pain syndromes. A few of pathogenic SCN9A mutations with or without SCN1A mutations have been identified in epileptic patients. Here, we report two heterozygous SCN9A mutations with no SCN1A mutations, which are associated with variable epilepsy phenotypes and explored the possibility of SCN9A contributing to a multifactorial etiology for epilepsy. Our findings suggest that the two SCN9A mutations (c.980G>A chr2:167149868 p.G327E; c...
March 2, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29486580/the-contribution-of-cacna1a-atp1a2-and-scn1a-mutations-in-hemiplegic-migraine-a-clinical-and-genetic-study-in-finnish-migraine-families
#8
Marjo Eveliina Hiekkala, Pietari Vuola, Ville Artto, Paavo Häppölä, Elisa Häppölä, Salli Vepsäläinen, Ester Cuenca-León, Dennis Lal, Padhraig Gormley, Eija Hämäläinen, Matti Ilmavirta, Markku Nissilä, Erkki Säkö, Marja-Liisa Sumelahti, Hanna Harno, Hannele Havanka, Petra Keski-Säntti, Markus Färkkilä, Aarno Palotie, Maija Wessman, Mari Anneli Kaunisto, Mikko Kallela
Objective To study the position of hemiplegic migraine in the clinical spectrum of migraine with aura and to reveal the importance of CACNA1A, ATP1A2 and SCN1A in the development of hemiplegic migraine in Finnish migraine families. Methods The International Classification of Headache Disorders 3rd edition criteria were used to determine clinical characteristics and occurrence of hemiplegic migraine, based on detailed questionnaires, in a Finnish migraine family collection consisting of 9087 subjects. Involvement of CACNA1A, ATP1A2 and SCN1A was studied using whole exome sequencing data from 293 patients with hemiplegic migraine...
January 1, 2018: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/29466837/mutations-in-scn3a-cause-early-infantile-epileptic-encephalopathy
#9
Tariq Zaman, Ingo Helbig, Ivana Babić Božović, Suzanne D DeBrosse, A Christina Bergqvist, Kimberly Wallis, Livija Medne, Aleš Maver, Borut Peterlin, Katherine L Helbig, Xiaohong Zhang, Ethan M Goldberg
OBJECTIVE: Voltage-gated sodium (Na+ ) channels underlie action potential generation and propagation and hence are central to the regulation of excitability in the nervous system. Mutations in the genes SCN1A, SCN2A, and SCN8A, encoding the Na+ channel pore-forming (α) subunits Nav1.1, 1.2, and 1.6, respectively, and SCN1B, encoding the accessory subunit β1 , are established causes of genetic epilepsies. SCN3A, encoding Nav1.3, is known to be highly expressed in brain, but has not previously been linked to early infantile epileptic encephalopathy...
February 21, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29460957/mosaicism-of-de-novo-pathogenic-scn1a-variants-in-epilepsy-is-a-frequent-phenomenon-that-correlates-with-variable-phenotypes
#10
Iris M de Lange, Marco J Koudijs, Ruben van 't Slot, Boudewijn Gunning, Anja C M Sonsma, Lisette J J M van Gemert, Flip Mulder, Ellen C Carbo, Marjan J A van Kempen, Nienke E Verbeek, Isaac J Nijman, Robert F Ernst, Sanne M C Savelberg, Nine V A M Knoers, Eva H Brilstra, Bobby P C Koeleman
OBJECTIVE: Phenotypes caused by de novo SCN1A pathogenic variants are very variable, ranging from severely affected patients with Dravet syndrome to much milder genetic epilepsy febrile seizures plus cases. The most important determinant of disease severity is the type of variant, with variants that cause a complete loss of function of the SCN1A protein (α-subunit of the neuronal sodium channel Nav1.1) being detected almost exclusively in Dravet syndrome patients. However, even within Dravet syndrome disease severity ranges greatly, and consequently other disease modifiers must exist...
February 20, 2018: Epilepsia
https://www.readbyqxmd.com/read/29455050/targeted-gene-panel-and-genotype-phenotype-correlation-in-children-with-developmental-and-epileptic-encephalopathy
#11
Ara Ko, Song Ee Youn, Se Hee Kim, Joon Soo Lee, Sangwoo Kim, Jong Rak Choi, Heung Dong Kim, Seung-Tae Lee, Hoon-Chul Kang
OBJECTIVE: We performed targeted gene-panel sequencing for children with developmental and epileptic encephalopathy (DEE) and evaluated the clinical implications of genotype-phenotype correlations. METHODS: We assessed 278 children with DEE using a customized gene panel that included 172 genes, and extensively reviewed their clinical characteristics, including therapeutic efficacy, according to genotype. RESULTS: In 103 (37.1%) of the 278 patients with DEE, 35 different disease-causing monogenic mutations were identified...
March 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29453127/generation-of-d1-1-talen-isogenic-control-cell-line-from-dravet-syndrome-patient-ipscs-using-talen-mediated-editing-of-the-scn1a-gene
#12
Yasuyoshi Tanaka, Takefumi Sone, Norimichi Higurashi, Tetsushi Sakuma, Sadafumi Suzuki, Mitsuru Ishikawa, Takashi Yamamoto, Jun Mitsui, Hitomi Tsuji, Hideyuki Okano, Shinichi Hirose
Dravet syndrome (DS) is an infantile epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene encoding the α1 subunit of the voltage-gated sodium channel Nav 1.1. As an in vitro model of this disease, we previously generated an induced pluripotent stem cell (iPSC) line from a patient with DS carrying a c.4933C>T (p.R1645*) substitution in SCN1A. Here, we describe developing a genome-edited control cell line from this DS iPSC line by substituting the point mutation with the wild-type residue...
April 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29429462/-association-between-scn1a-rs3812718-polymorphism-and-generalized-epilepsy-with-febrile-seizures-plus
#13
Qi-Ling Ma, Bo Wang, Guang-Fu Chen, Jian-Lin Huang, Yun Li, De-Zhi Cao, Rong-Tian Liu
OBJECTIVE: To investigate the association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus (GEFS+), and to provide potential molecular targets for the diagnosis and treatment of GEFS+. METHODS: The iPLEX technique in the MassARRAY system was used to determine SCN1A rs3812718 polymorphism, genotype frequency, and allele frequency in 50 patients with GEFS+ and 50 healthy controls. RESULTS: As for the frequencies of CC, CT, and TT genotypes in SCN1A rs3812718, there was a significant difference in the frequency of TT genotype between the GEFS+ group and the control group (P<0...
February 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29408779/pathogenic-significance-of-scn1a-splicing-variants-causing-dravet-syndrome-improving-diagnosis-with-targeted-sequencing-for-variants-by-in-silico-analysis
#14
Nejat Mahdieh, Sepideh Mikaeeli, Reza Shervin Badv, Azadeh Gharehzadeh Shirazi, Majid Maleki, Bahareh Rabbani
OBJECTIVES: Genetic heterogeneity of epileptic encephalopathy (IEE) mandates the use of gene-panels for diagnosis. PATIENTS AND METHODS: A 36-gene-panel next-generation sequencing was applied for IEE in two Iranian families. A literature search was performed using keywords to identify reported splicing mutations in SCN1A and perform genotype-phenotype correlation. RESULTS: An update of splicing mutations revealed 147 variants with 65.75% of them de novo mutations...
January 31, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29390993/efficient-strategy-for-the-molecular-diagnosis-of-intractable-early-onset-epilepsy-using-targeted-gene-sequencing
#15
John Hoon Rim, Se Hee Kim, In Sik Hwang, Soon Sung Kwon, Jieun Kim, Hyun Woo Kim, Min Jung Cho, Ara Ko, Song Ee Youn, Jihun Kim, Young Mock Lee, Hee Jung Chung, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang
BACKGROUND: We intended to evaluate diagnostic utility of a targeted gene sequencing by using next generation sequencing (NGS) panel in patients with intractable early-onset epilepsy (EOE) and find the efficient analytical step for increasing the diagnosis rate. METHODS: We assessed 74 patients with EOE whose seizures started before 3 years of age using a customized NGS panel that included 172 genes. Single nucleotide variants (SNVs) and exonic and chromosomal copy number variations (CNVs) were intensively examined with our customized pipeline and crosschecked with commercial or pre-built software...
February 1, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29353705/association-between-scn1a-gene-polymorphisms-and-drug-resistant-epilepsy-in-pediatric-patients
#16
Lucia Margari, Anna R Legrottaglie, Alessandra Vincenti, Giangennaro Coppola, Francesca F Operto, Maura Buttiglione, Amalia Cassano, Nicola Bartolomeo, Maria A Mariggiò
PURPOSE: "Single Nucleotide Polymorphisms (SNPs)" could be an important explanation of drug resistance in epilepsy. The aim of this study was to investigate if genetic polymorphisms (SNPs) of the SCN1A gene could influence the response to anti - epileptic drugs (AED) and if they could predispose to a drug resistant epilepsy in pediatric patients. METHODS: We investigated SNPs in exon and intronic regions of the SCN1A gene in a sample of 120 pediatric patients, in both drug-resistant and drug-responsive patients...
February 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29343472/clinical-spectrum-of-hemiplegic-migraine-and-chances-of-finding-a-pathogenic-mutation
#17
Nadine Pelzer, Joost Haan, Anine H Stam, Lisanne S Vijfhuizen, Stephany C Koelewijn, Amber Smagge, Boukje de Vries, Michel D Ferrari, Arn M J M van den Maagdenberg, Gisela M Terwindt
OBJECTIVE: To investigate whether the clinical characteristics of patients with hemiplegic migraine with and without autosomal dominant mutations in CACNA1A , ATP1A2 , or SCN1A differ, and whether the disease may be caused by mutations in other genes. METHODS: We compared the clinical characteristics of 208 patients with familial (n = 199) or sporadic (n = 9) hemiplegic migraine due to a mutation in CACNA1A , ATP1A2 , or SCN1A with those of 73 patients with familial (n = 49) or sporadic (n = 24) hemiplegic migraine without a mutation in these genes...
February 13, 2018: Neurology
https://www.readbyqxmd.com/read/29341473/somatic-mosaic-deletions-involving-scn1a-cause-dravet-syndrome
#18
Tojo Nakayama, Atsushi Ishii, Takeshi Yoshida, Hirosato Nasu, Keiko Shimojima, Toshiyuki Yamamoto, Shigeo Kure, Shinichi Hirose
Somatic mosaicism in single nucleotide variants of SCN1A is known to occur in a subset of parents of children with Dravet syndrome (DS). Here, we report recurrent somatic mosaic microdeletions involving SCN1A in children diagnosed with DS. Through the evaluation of 237 affected individuals with DS who did not show SCN1A or PCHD19 mutations in prior sequencing analyzes, we identified two children with mosaic microdeletions covering the entire SCN1A region. The allele frequency of the mosaic deletions estimated by multiplex ligation-dependent probe amplification and array comparative genomic hybridization was 25-40%, which was comparable to the mosaic ratio in lymphocytes and buccal mucosa cells observed by fluorescence in situ hybridization analysis...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29337050/impairments-in-social-novelty-recognition-and-spatial-memory-in-mice-with-conditional-deletion-of-scn1a-in-parvalbumin-expressing-cells
#19
Tetsuya Tatsukawa, Ikuo Ogiwara, Emi Mazaki, Atsushi Shimohata, Kazuhiro Yamakawa
Loss of function mutations in the SCN1A gene, which encodes the voltage-gated sodium channel Nav1.1, have been described in the majority of Dravet syndrome patients presenting with epileptic seizures, hyperactivity, autistic traits, and cognitive decline. We previously reported predominant Nav1.1 expression in parvalbumin-expressing (PV+) inhibitory neurons in juvenile mouse brain and observed epileptic seizures in mice with selective deletion of Scn1a in PV+ cells mediated by PV-Cre transgene expression (Scn1afl/+ /PV-Cre-TG)...
April 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29329111/severe-peri-ictal-respiratory-dysfunction-is-common-in-dravet-syndrome
#20
YuJaung Kim, Eduardo Bravo, Caitlin K Thirnbeck, Lori A Smith-Mellecker, Se Hee Kim, Brian K Gehlbach, Linda C Laux, Xiuqiong Zhou, Douglas R Nordli, George B Richerson
Dravet syndrome (DS) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene SCN1A. Patients with DS have a high risk of sudden unexplained death in epilepsy (SUDEP), widely believed to be due to cardiac mechanisms. Here we show that patients with DS commonly have peri-ictal respiratory dysfunction. One patient had severe and prolonged postictal hypoventilation during video EEG monitoring and died later of SUDEP. Mice with an Scn1aR1407X/+ loss-of-function mutation were monitored and died after spontaneous and heat-induced seizures due to central apnea followed by progressive bradycardia...
March 1, 2018: Journal of Clinical Investigation
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