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。The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood
Jan Henje Doering et al.
BIOMEDICINES (2020)
Advances in genetics of migraine
Heidi G. Sutherland et al.
JOURNAL OF HEADACHE AND PAIN (2019)
Headache Classification Committee of the International Headache Society (IHS) The International Classification of Headache Disorders, 3rd edition
Jes Olesen
CEPHALALGIA (2018)
Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine
Sandra Dhifallah et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2018)
Genetics of Focal Epilepsies: What Do We Know and Where Are We Heading?
Piero Perucca
EPILEPSY CURRENTS (2018)
Recurrent coma and fever in familial hemiplegic migraine type 2. A prospective 15-year follow-up of a large family with a novel ATP1A2 mutation
N. Pelzer et al.
CEPHALALGIA (2017)
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
Ingrid E. Scheffer et al.
EPILEPSIA (2017)
HYPERPOLARIZATION-ACTIVATED CURRENT /H IN MOUSE TRIGEMINAL SENSORY NEURONS IN A TRANSGENIC MOUSE MODEL OF FAMILIAL HEMIPLEGIC MIGRAINE TYPE-1
Francesca Eroli et al.
NEUROSCIENCE (2017)
PATHOPHYSIOLOGY OF MIGRAINE: A DISORDER OF SENSORY PROCESSING
Peter J. Goadsby et al.
PHYSIOLOGICAL REVIEWS (2017)
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation
Chunxiang Fan et al.
CEPHALALGIA (2016)
The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine
Simona Pellacani et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2016)
Insights into the Pathology of the α2-Na+/K+-ATPase in Neurological Disorders; Lessons from Animal Models
Toke J. Isaksen et al.
FRONTIERS IN PHYSIOLOGY (2016)
ATP1A2 Mutations in Migraine: Seeing through the Facets of an Ion Pump onto the Neurobiology of Disease
Thomas Friedrich et al.
FRONTIERS IN PHYSIOLOGY (2016)
Meta-analysis of the heritability of human traits based on fifty years of twin studies
Tinca J. C. Polderman et al.
NATURE GENETICS (2015)
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy
Cinzia Costa et al.
CEPHALALGIA (2014)
Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene
Christian Roth et al.
CEPHALALGIA (2014)
Familial hemiplegic migraine due to L263V SCNIA mutation: Discordance for epilepsy between two kindreds from Douro Valley
Jose Barros et al.
CEPHALALGIA (2014)
A Wide Clinical Phenotype Spectrum in Patients With ATP1A2 Mutations
Bashaer Al-Bulushi et al.
JOURNAL OF CHILD NEUROLOGY (2014)
The hidden genetics of epilepsy-a clinically important new paradigm
Rhys H. Thomas et al.
NATURE REVIEWS NEUROLOGY (2014)
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
Dalia Kasperaviciute et al.
BRAIN (2013)
Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation
Kang Wang et al.
BRAIN & DEVELOPMENT (2013)
Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy
Tiziana Pisano et al.
CEPHALALGIA (2013)
Familial and Sporadic Hemiplegic Migraine: Diagnosis and Treatment
Nadine Pelzer et al.
CURRENT TREATMENT OPTIONS IN NEUROLOGY (2013)
Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine
Sandrine Cestele et al.
EPILEPSIA (2013)
Genetic effects of ATP1A2 in familial hemiplegic migraine type II and animal models
Stephanie M. Gritz et al.
HUMAN GENOMICS (2013)
Migraine headache: a review of the molecular genetics of a common disorder
Cherubino Di Lorenzo et al.
JOURNAL OF HEADACHE AND PAIN (2012)
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
Carla Marini et al.
NEUROLOGY (2012)
PRRT2 gene mutations From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine
Alice R. Gardiner et al.
NEUROLOGY (2012)
PRRT2 mutations cause hemiplegic migraine
Florence Riant et al.
NEUROLOGY (2012)
Migralepsy, hemicrania epileptica, post-ictal headache and ictal epileptic headache'': a proposal for terminology and classification revision
Vincenzo Belcastro et al.
JOURNAL OF HEADACHE AND PAIN (2011)
Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management
Michael Bjorn Russell et al.
LANCET NEUROLOGY (2011)
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
Wan-Jin Chen et al.
NATURE GENETICS (2011)
Migralepsy and related conditions: Advances in pathophysiology and classification
Alberto Verrotti et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2011)
Definition of drug resistant epilepsy: Consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies
Patrick Kwan et al.
EPILEPSIA (2010)
First mutation in the voltage-gated NaV1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy
M-J Castro et al.
CEPHALALGIA (2009)
Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation
Boukje de Vries et al.
EPILEPSIA (2009)
Migralepsy: A call for a revision of the definition
Grazia Sances et al.
EPILEPSIA (2009)
Enhanced Excitatory Transmission at Cortical Synapses as the Basis for Facilitated Spreading Depression in Cav2.1 Knockin Migraine Mice
Angelita Tottene et al.
NEURON (2009)
Severe attacks of familial hemiplegic migraine, childhood epilepsy and ATP1A2 mutation
A. Lebas et al.
CEPHALALGIA (2008)
Familial hemiplegic migraine type 2 does not share hypersensitivity to nitric oxide with common types of migraine
J. M. Hansen et al.
CEPHALALGIA (2008)
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood
B. de Vries et al.
CEPHALALGIA (2008)
Epilepsy as part of the phenotype associated with ATP1A2 mutations
Liesbet Deprez et al.
EPILEPSIA (2008)
Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation
Yee-Cheun Chan et al.
JOURNAL OF CLINICAL NEUROSCIENCE (2008)
Calcitonin gene-related peptide does not cause the familial hemiplegic migraine phenotype
Jakob Moller Hansen et al.
NEUROLOGY (2008)
Prolonged hemiplegic episodes in children due to mutations in ATP1A2
J. C. Jen et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2007)
Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation
KRJ Vanmolkot et al.
ANNALS OF NEUROLOGY (2006)
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine
M Dichgans et al.
LANCET (2005)
A G301R Na+/K+-ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs
M Spadaro et al.
NEUROGENETICS (2004)
Genes and mutations in human idiopathic epilepsy
OK Steinlein
BRAIN & DEVELOPMENT (2004)
Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants
K Jurkat-Rott et al.
NEUROLOGY (2004)
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2
M De Fusco et al.
NATURE GENETICS (2003)
From ionic currents to molecular mechanisms: The structure and function of voltage-gated sodium channels
WA Catterall
NEURON (2000)
分享论文
