Related references
Note: Only part of the references are listed.Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance
Federico Zara et al.
EPILEPSIA (2013)
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings
Marlin Touma et al.
EPILEPSIA (2013)
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
Krishna R. Veeramah et al.
EPILEPSIA (2013)
Cohort Profile: A population-based cohort to study non-motor symptoms in parkinsonism (EPIPARK)
Meike Kasten et al.
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY (2013)
From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease
Chee-Seng Ku et al.
JOURNAL OF MEDICAL GENETICS (2013)
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
Gemma L. Carvill et al.
NATURE GENETICS (2013)
Sodium channels and the neurobiology of epilepsy
Megan Oliva et al.
EPILEPSIA (2012)
Targeted next generation sequencing as a diagnostic tool in epileptic disorders
Johannes R. Lemke et al.
EPILEPSIA (2012)
Acute encephalopathy with a novel point mutation in the SCN2A gene
Katsuhiro Kobayashi et al.
EPILEPSY RESEARCH (2012)
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy
Ji-Wen Wang et al.
EPILEPSY RESEARCH (2012)
Clinical application of exome sequencing in undiagnosed genetic conditions
Anna C. Need et al.
JOURNAL OF MEDICAL GENETICS (2012)
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Anita Rauch et al.
LANCET (2012)
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Stephan J. Sanders et al.
NATURE (2012)
APPLICATIONS OF NEXT-GENERATION SEQUENCING De novo mutations in human genetic disease
Joris A. Veltman et al.
NATURE REVIEWS GENETICS (2012)
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy
Yunxiang Liao et al.
BRAIN (2010)
A map of human genome variation from population-scale sequencing
David Altshuler et al.
NATURE (2010)
A de novo paradigm for mental retardation
Lisenka E. L. M. Vissers et al.
NATURE GENETICS (2010)
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain
Y. Liao et al.
NEUROLOGY (2010)
Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome
Xiuyu Shi et al.
BRAIN & DEVELOPMENT (2009)
De novo mutations of voltage-gated sodium channel αII gene SCN2A in intractable epilepsies
I. Ogiwara et al.
NEUROLOGY (2009)
Ion channels in epilepsy
S. M. Mizielinska
BIOCHEMICAL SOCIETY TRANSACTIONS (2007)
SCN2A mutations and benign familial neonatal-infantile seizures:: The phenotypic spectrum
Eric Herlenius et al.
EPILEPSIA (2007)
A novel SCN2A mutation in family with benign familial infantile seizures
P Striano et al.
EPILEPSIA (2006)
Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy
SF Berkovic et al.
ANNALS OF NEUROLOGY (2004)
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline
K Kamiya et al.
JOURNAL OF NEUROSCIENCE (2004)
Sodium-channel defects in benign familial neonatal-infantile seizures
SE Heron et al.
LANCET (2002)
The voltage-gated sodium channel gene SCN27A and idiopathic generalized epilepsy
K Haug et al.
EPILEPSY RESEARCH (2001)
A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
T Sugawara et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Share Paper
