标题
SCN1Atesting for epilepsy: Application in clinical practice
作者
关键词
-
出版物
EPILEPSIA
Volume 54, Issue 5, Pages 946-952
出版商
Wiley
发表日期
2013-04-16
DOI
10.1111/epi.12168
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。- A homozygous mutation of voltage-gated sodium channel βIgeneSCN1Bin a patient with Dravet syndrome
- (2012) Ikuo Ogiwara et al. EPILEPSIA
- De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
- (2012) Giulia Barcia et al. NATURE GENETICS
- An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy
- (2011) Gerald Raymond et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- 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
- The pharmacologic treatment of Dravet syndrome
- (2011) Catherine Chiron et al. EPILEPSIA
- PCDH19 mutation in Japanese females with epilepsy
- (2011) Norimichi Higurashi et al. EPILEPSY RESEARCH
- 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
- Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3
- (2010) Sarah E. Heron et al. EPILEPSIA
- Genetic testing in the epilepsies-Report of the ILAE Genetics Commission
- (2010) Ruth Ottman et al. EPILEPSIA
- Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome
- (2010) Tojo Nakayama et al. HUMAN MUTATION
- Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
- (2010) C. Depienne et al. JOURNAL OF MEDICAL GENETICS
- Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study
- (2010) Anne M McIntosh et al. LANCET NEUROLOGY
- Protocadherin 19 mutations in girls with infantile-onset epilepsy
- (2010) C. Marini et al. NEUROLOGY
- Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome
- (2009) Xiuyu Shi et al. BRAIN & DEVELOPMENT
- Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
- (2009) Ingrid E. Scheffer et al. BRAIN & DEVELOPMENT
- SCN1Aduplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
- (2009) Carla Marini et al. EPILEPSIA
- Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy
- (2009) Takafumi Sakakibara et al. EPILEPSIA
- A Functional Null Mutation of SCN1B in a Patient with Dravet Syndrome
- (2009) G. A. Patino et al. JOURNAL OF NEUROSCIENCE
- Child Neurology: Dravet syndrome: When to suspect the diagnosis
- (2009) J. J. Millichap et al. NEUROLOGY
- Epilepsy and mental retardation limited to females: an under-recognized disorder
- (2008) Ingrid E. Scheffer et al. BRAIN
- A catalog of SCN1A variants
- (2008) Christoph Lossin BRAIN & DEVELOPMENT
- Microchromosomal deletions involvingSCN1Aand adjacent genes in severe myoclonic epilepsy in infancy
- (2008) Ji-wen Wang 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
- X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
- (2008) Leanne M Dibbens et al. NATURE GENETICS
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