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。ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
Ingrid E. Scheffer et al.
EPILEPSIA (2017)
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study
Andrew S. Allen et al.
LANCET NEUROLOGY (2017)
Primer Part 1-The building blocks of epilepsy genetics
Ingo Helbig et al.
EPILEPSIA (2016)
1. Benign form of Unverricht–Lundborg disease (ULD) mimicking juvenile myoclonic epilepsy (JME) in adulthood
D. Amrom et al.
CLINICAL NEUROPHYSIOLOGY (2014)
Does ketogenic diet improve cognitive function in patients with GLUT1-DS? A 6-to 17-month follow-up study
Anette Ramm-Pettersen et al.
EPILEPSY & BEHAVIOR (2014)
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies
Richard J. L. Anney et al.
LANCET NEUROLOGY (2014)
Progressive myoclonic epilepsies Definitive and still undetermined causes
Silvana Franceschetti et al.
NEUROLOGY (2014)
Clinical dissection of early onset absence epilepsy in children and prognostic implications
Sergio Agostinelli et al.
EPILEPSIA (2013)
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
Saul A. Mullen et al.
NEUROLOGY (2013)
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies
Todor Arsov et al.
ANNALS OF NEUROLOGY (2012)
Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes
Amanda W. Pong et al.
EPILEPSIA (2012)
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency
Todor Arsov et al.
EPILEPSIA (2012)
Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome
Hiltrud Muhle et al.
EPILEPSIA (2011)
Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy
Pamela Lachance-Touchette et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2011)
Common variants at VRK2 and TCF4 conferring risk of schizophrenia
Stacy Steinberg et al.
HUMAN MOLECULAR GENETICS (2011)
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
Carolien G. F. de Kovel et al.
BRAIN (2010)
Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
Anne T. Berg et al.
EPILEPSIA (2010)
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency
S. A. Mullen et al.
NEUROLOGY (2010)
Early-Onset Absence Epilepsy Caused by Mutations in the Glucose Transporter GLUT1
Arvid Suls et al.
ANNALS OF NEUROLOGY (2009)
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
Leanne M. Dibbens et al.
HUMAN MOLECULAR GENETICS (2009)
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Ingo Helbig et al.
NATURE GENETICS (2009)
A neurologist's guide to genome-wide association studies
S. A. Mullen et al.
NEUROLOGY (2009)
Large recurrent microdeletions associated with schizophrenia
Hreinn Stefansson et al.
NATURE (2008)
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
Andrew J. Sharp et al.
NATURE GENETICS (2008)
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Leanne M. Dibbens et al.
NATURE GENETICS (2008)
Recurrent 16p11.2 microdeletions in autism
Ravinesh A. Kumar et al.
HUMAN MOLECULAR GENETICS (2008)
Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families
C Marini et al.
EPILEPSIA (2004)
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
L Claes et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures
RH Wallace et al.
NATURE GENETICS (2001)
Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus
RH Wallace et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)