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 neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature
E. Indelicato et al.
EUROPEAN JOURNAL OF NEUROLOGY (2019)
A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel
Dan Ye et al.
HEART RHYTHM (2019)
A mutation in Cav2.1 linked to a severe neurodevelopmental disorder impairs channel gating
Sidharth Tyagi et al.
JOURNAL OF GENERAL PHYSIOLOGY (2019)
Molecular Basis for Ligand Modulation of a Mammalian Voltage-Gated Ca2+ Channel
Yanyu Zhao et al.
CELL (2019)
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome
Xiao Jiang et al.
EPILEPSIA (2019)
Pregabalin: Potential for Addiction and a Possible Glutamatergic Mechanism
Yusuf S. Althobaiti et al.
SCIENTIFIC REPORTS (2019)
A skeletal muscle L-type Ca2+ channel with a mutation in the selectivity filter (Cav1.1 E1014K) conducts K+
Donald Beqollari et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2018)
Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation
Nadine Pelzer et al.
NEUROLOGY (2018)
New Cav2 calcium channel gating modifiers with agonist activity and therapeutic potential to treat neuromuscular disease
Man Wu et al.
NEUROPHARMACOLOGY (2018)
Calcium channel gating
S. Hering et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2018)
ON THE ADDICTIVE POWER OF GABAPENTINOIDS: A MINI-REVIEW
Udo Bonnet et al.
PSYCHIATRIA DANUBINA (2018)
New CACNA1A deletions are associated to migraine phenotypes
G. S. Grieco et al.
JOURNAL OF HEADACHE AND PAIN (2018)
Drosophila CaV2 channels harboring human migraine mutations cause synapse hyperexcitability that can be suppressed by inhibition of a Ca2+ store release pathway
Douglas J. Brusich et al.
PLOS GENETICS (2018)
Cross talk between β subunits, intracellular Ca2+ signaling, and SNAREs in the modulation of CaV2.1 channel steady-state inactivation
Selma Angelica Serra et al.
PHYSIOLOGICAL REPORTS (2018)
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia
Lorena Travaglini et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2017)
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Xi Luo et al.
PLOS GENETICS (2017)
Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia
Celia Sintas et al.
SCIENTIFIC REPORTS (2017)
Genetic Variants Associated with Episodic Ataxia in Korea
Kwang-Dong Choi et al.
SCIENTIFIC REPORTS (2017)
Case report of novel CACNA1A gene mutation causing episodic ataxia type 2
David Alan Isaacs et al.
SAGE OPEN MEDICAL CASE REPORTS (2017)
Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2
Andrea Petrovicova et al.
BIOMEDICAL PAPERS-OLOMOUC (2017)
Clemizole and modulators of serotonin signalling suppress seizures in Dravet syndrome
Aliesha Griffin et al.
BRAIN (2017)
Eye movement disorders are an early manifestation of CACNA1A mutations in children
Esther M. Tantsis et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2016)
Voltage-gated calcium channels and their auxiliary subunits: physiology and pathophysiology and pharmacology
Annette C. Dolphin
JOURNAL OF PHYSIOLOGY-LONDON (2016)
Structure of the voltage-gated calcium channel Cav1.1 at 3.6 Å resolution
Jianping Wu et al.
NATURE (2016)
A CaV2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant
Shehrazade Dahimene et al.
NEUROBIOLOGY OF DISEASE (2016)
Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay
Derek L. Weyhrauch et al.
PEDIATRIC NEUROLOGY (2016)
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2
Neven Maksemous et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2016)
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms
Lena Damaj et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
The Role of Auxiliary Subunits for the Functional Diversity of Voltage-Gated Calcium Channels
Marta Campiglio et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2015)
Abnormal cortical synaptic transmission in CaV2.1 knockin mice with the S218L missense mutation which causes a severe familial hemiplegic migraine syndrome in humans
Dania Vecchia et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2015)
Ca2+ permeation and/or binding to CaV1.1 fine-tunes skeletal muscle Ca2+ signaling to sustain muscle function
Chang Seok Lee et al.
SKELETAL MUSCLE (2015)
A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx
Maria Isabel Bahamonde et al.
PLOS ONE (2015)
Exome Analysis of Connective Tissue Dysplasia: Death and Rebirth of Clinical Genetics?
Golder N. Wilson
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
The first knockin mouse model of episodic ataxia type 2
Samuel J. Rose et al.
EXPERIMENTAL NEUROLOGY (2014)
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yaping Yang et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Synaptic Gain-of-Function Effects of Mutant Cav2.1 Channels in a Mouse Model of Familial Hemiplegic Migraine Are Due to Increased Basal [Ca2+]i
Mariano N. Di Guilmi et al.
JOURNAL OF NEUROSCIENCE (2014)
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
Sarah E. Soden et al.
SCIENCE TRANSLATIONAL MEDICINE (2014)
Structure-function of proteins interacting with the α1 pore-forming subunit of high-voltage-activated calcium channels
Alan Neely et al.
FRONTIERS IN PHYSIOLOGY (2014)
The familial hemiplegic migraine type 1 mutation K1336E affects direct G protein-mediated regulation of neuronal P/Q-type Ca2+ channels
Edgar Garza-Lopez et al.
CEPHALALGIA (2013)
Evaluation of a Novel Calcium Channel Agonist for Therapeutic Potential in Lambert-Eaton Myasthenic Syndrome
Tyler B. Tarr et al.
JOURNAL OF NEUROSCIENCE (2013)
Zebrafish Calls for Reinterpretation for the Roles of P/Q Calcium Channels in Neuromuscular Transmission
Hua Wen et al.
JOURNAL OF NEUROSCIENCE (2013)
De novo mutations in epileptic encephalopathies
Andrew S. Allen et al.
NATURE (2013)
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood
Chihiro Ohba et al.
NEUROGENETICS (2013)
Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies
Oriel Carreno et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2013)
Treatment in Lambert-Eaton myasthenic syndrome
Paul Maddison
MYASTHENIA GRAVIS AND RELATED DISORDERS II (2012)
Familial hemiplegic migraine type 1 mutations W1684R and V1696I alter G protein-mediated regulation of CaV2.1 voltage-gated calcium channels
Edgar Garza-Lopez et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2012)
Touch responsiveness in zebrafish requires voltage-gated calcium channel 2.1b
Sean E. Low et al.
JOURNAL OF NEUROPHYSIOLOGY (2012)
Cerebellar Ataxia by Enhanced CaV2.1 Currents Is Alleviated by Ca2+-Dependent K+-Channel Activators in Cacna1aS218L Mutant Mice
Zhenyu Gao et al.
JOURNAL OF NEUROSCIENCE (2012)
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS
Sanjeev Rajakulendran et al.
NATURE REVIEWS NEUROLOGY (2012)
Detection of a Novel Mutation in the CACNA1A gene
Shani Stuart et al.
TWIN RESEARCH AND HUMAN GENETICS (2012)
A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline
T. Freilinger et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2011)
New mutation of CACNA1A gene in episodic ataxia type 2
Koki Nikaido et al.
PEDIATRICS INTERNATIONAL (2011)
Recurrent Stroke Due to a Novel Voltage Sensor Mutation in Cav2.1 Responds to Verapamil
Ellen Knierim et al.
STROKE (2011)
High Cortical Spreading Depression Susceptibility and Migraine-Associated Symptoms in Ca(V)2.1 S218L Mice
Arn M. J. M. van den Maagdenberg et al.
ANNALS OF NEUROLOGY (2010)
N Terminus Is Key to the Dominant Negative Suppression of CaV2 Calcium Channels IMPLICATIONS FOR EPISODIC ATAXIA TYPE 2
Karen M. Page et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Congenital Ataxia, Mental Retardation, and Dyskinesia Associated With a Novel CACNA1A Mutation
Lubov Blumkin et al.
JOURNAL OF CHILD NEUROLOGY (2010)
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation
Romina Romaniello et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2010)
Severe and Progressive Neurotransmitter Release Aberrations in Familial Hemiplegic Migraine Type 1 Cacna1a S218L Knock-in Mice
Simon Kaja et al.
JOURNAL OF NEUROPHYSIOLOGY (2010)
Different Relationship of N- and P/Q-Type Ca2+ Channels to Channel- Interacting Slots in Controlling Neurotransmission at Cultured Hippocampal Synapses
Yu-Qing Cao et al.
JOURNAL OF NEUROSCIENCE (2010)
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy
Sanjeev Rajakulendran et al.
JOURNAL OF PHYSIOLOGY-LONDON (2010)
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2
Elide Mantuano et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2010)
Fluctuating neuromuscular transmission defects and inverse acetazolamide response in episodic ataxia type 2 associated with the novel CaV2.1 single amino acid substitution R2090Q
Nico Melzer et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2010)
De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine
F. Riant et al.
NEUROLOGY (2010)
Ion Channel Voltage Sensors: Structure, Function, and Pathophysiology
William A. Catterall
NEURON (2010)
CaV2.1 channelopathies
Daniela Pietrobon
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2010)
A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis
Selma A. Serra et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
A Gating Charge Transfer Center in Voltage Sensors
Xiao Tao et al.
SCIENCE (2010)
CaV2.1 P/Q-type calcium channel alternative splicing affects the functional impact of familial hemiplegic migraine mutations
Paul J. Adams et al.
CHANNELS (2009)
Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation
D. I. Zafeiriou et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2009)
Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood
P. Bertholon et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2009)
Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene
Ester Cuenca-Leon et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2009)
The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition
Selma A. Serra et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2009)
Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes
E. Cuenca-Leon et al.
CEPHALALGIA (2008)
A destructive interaction mechanism accounts for dominant-negative effects of misfolded mutants of voltage-gated calcium channels
Alexandre Mezghrani et al.
JOURNAL OF NEUROSCIENCE (2008)
Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies
T. Miki et al.
NEUROSCIENCE (2008)
Stepwise Developmental Regression Associated With Novel CACNA1A Mutation
Andrea A. Guerin et al.
PEDIATRIC NEUROLOGY (2008)
The S218L familial hemiplegic migraine mutation promotes deinhibition of Cav2.1 calcium channels during direct G-protein regulation
Norbert Weiss et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2008)
Dominant-negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q-type Ca2+ channels
Chung-Jiuan Jeng et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2008)
Primary episodic ataxias: diagnosis, pathogenesis and treatment
J. C. Jen et al.
BRAIN (2007)
Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop
F. Cricchi et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2007)
The genetic spectrum of a population-based sample of familial hemiplegic migraine
L. L. Thomsen et al.
BRAIN (2007)
Role of P/Q calcium channel in familial herniplegic migraine
Norbert Weiss et al.
M S-MEDECINE SCIENCES (2007)
Roscovitine differentially affects CaV2 and Kv channels by binding to the open state
Zafir Buraei et al.
NEUROPHARMACOLOGY (2007)
Local potassium signaling couples neuronal activity to vasodilation in the brain
Jessica A. Filosa et al.
NATURE NEUROSCIENCE (2006)
Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2
CJ Jeng et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2006)
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene
A Tonelli et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2006)
The mechanisms of action of gabapentin and pregaballin
GJ Sills
CURRENT OPINION IN PHARMACOLOGY (2006)
CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid
KA Scoggan et al.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2006)
Specific kinetic alterations of human CaV2.1 calcium channels produced by mutation S218L causing familial hemiplegic migraine and delayed cerebral edema and coma after minor head trauma
A Tottene et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
1H-MRS alterations in the cerebellum of patients with familial hemilegic migraine type 1
M Dichgans et al.
NEUROLOGY (2005)
Gene dosage-dependent transmitter release changes at neuromuscular synapses of Cacna1a R192Q knockin mice are non-progressive and do not lead to morphological changes or muscle weakness
S Kaja et al.
NEUROSCIENCE (2005)
A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression
AMJM van den Maagdenberg et al.
NEURON (2004)
Presynaptic Ca2+ channels compete for channel type-preferring slots in altered neurotransmission arising from Ca2+ channelopathy
YQ Cao et al.
NEURON (2004)
Functional implications of a novel EA2 mutation in the P/Q-type calcium channel
SD Spacey et al.
ANNALS OF NEUROLOGY (2004)
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia
P Imbrici et al.
BRAIN (2004)
A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha(1A)-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine
I Alonso et al.
CLINICAL GENETICS (2004)
Dominant-negative calcium channel suppression by truncated constructs involves a kinase implicated in the unfolded protein response
KM Page et al.
JOURNAL OF NEUROSCIENCE (2004)
Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2 -: art. no. e82
E Mantuano et al.
JOURNAL OF MEDICAL GENETICS (2004)
γ Subunit of voltage-activated calcium channels
MG Kang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
The familial hemiplegic migraine mutation R192Q reduces G-protein-mediated inhibition of P/Q-type (Cav2.1) calcium channels expressed in human embryonic kidney cells
K Melliti et al.
JOURNAL OF PHYSIOLOGY-LONDON (2003)
Episodic ataxia type 2 - Three novel truncating mutations and one novel missense mutation in the CACNA1A gene
AMJM van den Maagdenberg et al.
JOURNAL OF NEUROLOGY (2002)
Familial hemiplegic migraine mutations increase Ca2+ influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons
A Tottene et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Functional consequences of P/Q-type Ca2+ channel Ca(v)2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia
E Wappl et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission
J Jen et al.
NEUROLOGY (2001)
Spinocerebellar ataxia type 6: Channelopathy or glutamine repeat disorder?
M Frontali
BRAIN RESEARCH BULLETIN (2001)
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.
A Ducros et al.
NEW ENGLAND JOURNAL OF MEDICINE (2001)
Delayed cerebral edema and fatal coma after minor head trauma: Role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine
EE Kors et al.
ANNALS OF NEUROLOGY (2001)
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2
S Guida et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Missense CACNA1A mutation causing episodic ataxia type 2
C Denier et al.
ARCHIVES OF NEUROLOGY (2001)
CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy
K Vahedi et al.
NEUROLOGY (2000)