标题
The SCN1A gene variants and epileptic encephalopathies
作者
关键词
-
出版物
JOURNAL OF HUMAN GENETICS
Volume 58, Issue 9, Pages 573-580
出版商
Springer Nature
发表日期
2013-07-25
DOI
10.1038/jhg.2013.77
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Sudden unexpected death in a mouse model of Dravet syndrome
- (2013) Franck Kalume et al. JOURNAL OF CLINICAL INVESTIGATION
- Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome
- (2012) A. Brunklaus et al. BRAIN
- The clinical utility of anSCN1Agenetic diagnosis in infantile-onset epilepsy
- (2012) ANDREAS BRUNKLAUS et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Different degrees of loss of function between GEFS+ and SMEI Nav1.1 missense mutants at the same residue induced by rescuable folding defects
- (2012) Yoshihiro Sugiura et al. EPILEPSIA
- Targeted next generation sequencing as a diagnostic tool in epileptic disorders
- (2012) Johannes R. Lemke et al. EPILEPSIA
- A homozygous mutation of voltage-gated sodium channel βIgeneSCN1Bin a patient with Dravet syndrome
- (2012) Ikuo Ogiwara et al. EPILEPSIA
- NontruncatingSCN1AMutations Associated with Severe Myoclonic Epilepsy of Infancy Impair Cell Surface Expression
- (2012) Christopher H. Thompson et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Autistic-like behaviour in Scn1a +/− mice and rescue by enhanced GABA-mediated neurotransmission
- (2012) Sung Han et al. NATURE
- The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon read-through
- (2012) Xuan Huang et al. NEUROBIOLOGY OF DISEASE
- CACNA1A variants may modify the epileptic phenotype of Dravet syndrome
- (2012) Iori Ohmori et al. NEUROBIOLOGY OF DISEASE
- Preferential inactivation of Scn1a in parvalbumin interneurons increases seizure susceptibility
- (2012) Stacey B. Dutton et al. NEUROBIOLOGY OF DISEASE
- Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment
- (2012) Susumu Ito et al. NEUROBIOLOGY OF DISEASE
- SCN1A IVS5N+5 polymorphism and response to sodium valproate: a multicenter study
- (2012) Batoul Sadat Haerian et al. PHARMACOGENOMICS
- Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome
- (2012) Anna Ka-Yee Kwong et al. PLoS One
- NaV1.1 channels are critical for intercellular communication in the suprachiasmatic nucleus and for normal circadian rhythms
- (2012) S. Han et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome
- (2012) C. S. Cheah et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Novel SCN1A Mutation in a Proband With Malignant Migrating Partial Seizures of Infancy
- (2011) Emily R. Freilich et al. ARCHIVES OF NEUROLOGY
- Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology
- (2011) C. B. Catarino et al. BRAIN
- Clinical spectrum of SCN2A mutations
- (2011) Xiuyu Shi et al. BRAIN & DEVELOPMENT
- Developmental programming of early brain and behaviour development and mental health: a conceptual framework
- (2011) BEA R H VAN DEN BERGH DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Molecular and cellular basis: Insights from experimental models of Dravet syndrome
- (2011) Kazuhiro Yamakawa EPILEPSIA
- A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy
- (2011) Ida Manna et al. EPILEPSIA
- Dravet syndrome: The long-term outcome
- (2011) Pierre Genton et al. EPILEPSIA
- Pure haploinsufficiency for Dravet syndrome NaV1.1 (SCN1A) sodium channel truncating mutations
- (2011) Giulia Bechi et al. EPILEPSIA
- Autism in Dravet syndrome: Prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation
- (2011) Bing-Mei Li et al. EPILEPSY & BEHAVIOR
- Early clinical features in Dravet syndrome patients with and without SCN1A mutations
- (2011) Cristina Petrelli et al. EPILEPSY RESEARCH
- Nav1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome
- (2011) Linda Volkers et al. EUROPEAN JOURNAL OF NEUROSCIENCE
- De novo SCN1A mutations in migrating partial seizures of infancy
- (2011) D. Carranza Rojo et al. NEUROLOGY
- Genotype-phenotype associations in SCN1A-related epilepsies
- (2011) S. M. Zuberi et al. NEUROLOGY
- When Should Clinicians Order Genetic Testing for Dravet Syndrome?
- (2011) Jamie K. Fountain-Capal et al. PEDIATRIC NEUROLOGY
- Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene
- (2010) Renzo Guerrini et al. EPILEPSIA
- Sodium channel SCN1A and epilepsy: Mutations and mechanisms
- (2010) Andrew Escayg et al. EPILEPSIA
- Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome
- (2010) Tojo Nakayama et al. HUMAN MUTATION
- Altered Function of theSCN1AVoltage-gated Sodium Channel Leads to γ-Aminobutyric Acid-ergic (GABAergic) Interneuron Abnormalities
- (2010) Melinda S. Martin et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome
- (2010) Huihui Sun et al. JOURNAL OF HUMAN GENETICS
- Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies
- (2010) XiuYu Shi et al. JOURNAL OF HUMAN GENETICS
- Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
- (2010) C. Depienne et al. JOURNAL OF MEDICAL GENETICS
- NaV1.1 channels and epilepsy
- (2010) William A. Catterall et al. JOURNAL OF PHYSIOLOGY-LONDON
- Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects
- (2010) Miriam H. Meisler et al. JOURNAL OF PHYSIOLOGY-LONDON
- Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus
- (2010) Nicole A. Hawkins et al. NEUROBIOLOGY OF DISEASE
- Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome
- (2009) Xiuyu Shi et al. BRAIN & DEVELOPMENT
- Does aSCN1Agene mutation confer earlier age of onset of febrile seizures in GEFS+?
- (2009) Angelique E. J. Sijben et al. EPILEPSIA
- SCN1Aduplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
- (2009) Carla Marini et al. EPILEPSIA
- A long-term follow-up study of Dravet syndrome up to adulthood
- (2009) Mari Akiyama et al. EPILEPSIA
- Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice
- (2009) Ligia A. Papale et al. HUMAN MOLECULAR GENETICS
- TheSCN1Avariant database: a novel research and diagnostic tool
- (2009) Lieve RF Claes et al. HUMAN MUTATION
- Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity
- (2009) K Kanai et al. JOURNAL OF MEDICAL GENETICS
- De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin
- (2009) S. E. Heron et al. JOURNAL OF MEDICAL GENETICS
- A Functional Null Mutation of SCN1B in a Patient with Dravet Syndrome
- (2009) G. A. Patino et al. JOURNAL OF NEUROSCIENCE
- Regulation of Persistent Na Current by Interactions between Subunits of Voltage-Gated Na Channels
- (2009) T. K. Aman et al. JOURNAL OF NEUROSCIENCE
- A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation
- (2009) Bin Tang et al. NEUROBIOLOGY OF DISEASE
- De novo mutations of voltage-gated sodium channel II gene SCN2A in intractable epilepsies
- (2009) I. Ogiwara et al. NEUROLOGY
- Conservation-based prediction of the transcription regulatory region of the SCN1A gene
- (2009) Yue-Sheng Long et al. Progress in Natural Science-Materials International
- A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome
- (2009) Nanda A. Singh et al. PLoS Genetics
- A catalog of SCN1A variants
- (2008) Christoph Lossin BRAIN & DEVELOPMENT
- Debate: Does genetic information in humans help us treat patients?
- (2008) Antonio V. Delgado-Escueta et al. EPILEPSIA
- A Screening test for the prediction of Dravet syndrome before one year of age
- (2008) Junri Hattori et al. EPILEPSIA
- Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
- (2008) C Depienne et al. JOURNAL OF MEDICAL GENETICS
- Identification of the promoter region and the 5′-untranslated exons of the human voltage-gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5′-untranslated exons
- (2008) Yue-Sheng Long et al. JOURNAL OF NEUROSCIENCE RESEARCH
- Role of the amino and carboxy termini in isoform-specific sodium channel variation
- (2008) Annie Lee et al. JOURNAL OF PHYSIOLOGY-LONDON
- Nav1.1 is predominantly expressed in nodes of Ranvier and axon initial segments
- (2008) Amandine Duflocq et al. MOLECULAR AND CELLULAR NEUROSCIENCE
- Rasmussen encephalitis associated withSCN1Amutation
- (2007) Iori Ohmori et al. EPILEPSIA
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started