Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) Channelopathies

A mutation in CaV2.1 linked to a severe neurodevelopmental disorder impairs channel gating

(2019) Sidharth Tyagi et al.   JOURNAL OF GENERAL PHYSIOLOGY

Molecular Basis for Ligand Modulation of a Mammalian Voltage-Gated Ca2+ Channel

(2019) Yanyu Zhao et al.   CELL

Both gain‐of‐function and loss‐of‐function de novo CACNA 1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome

(2019) Xiao Jiang et al.   EPILEPSIA

Pregabalin: Potential for Addiction and a Possible Glutamatergic Mechanism

(2019) Yusuf S. Althobaiti et al.   Scientific Reports

A skeletal muscle L-type Ca2+channel with a mutation in the selectivity filter (CaV1.1 E1014K) conducts K+

(2018) Donald Beqollari et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation

(2018) Nadine Pelzer et al.   NEUROLOGY

New Cav2 calcium channel gating modifiers with agonist activity and therapeutic potential to treat neuromuscular disease

(2018) Man Wu et al.   NEUROPHARMACOLOGY

Calcium channel gating

(2018) S. Hering et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

ON THE ADDICTIVE POWER OF GABAPENTINOIDS: A MINI-REVIEW

(2018) Udo Bonnet et al.   Psychiatria Danubina

The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature

(2018) E. Indelicato et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

(2018) Dan Ye et al.   HEART RHYTHM

New CACNA1A deletions are associated to migraine phenotypes

(2018) G. S. Grieco et al.   JOURNAL OF HEADACHE AND PAIN

Drosophila CaV2 channels harboring human migraine mutations cause synapse hyperexcitability that can be suppressed by inhibition of a Ca2+ store release pathway

(2018) Douglas J. Brusich et al.   PLoS Genetics

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

(2017) Lorena Travaglini et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

(2017) Xi Luo et al.   PLoS Genetics

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

(2017) Cèlia Sintas et al.   Scientific Reports

Genetic Variants Associated with Episodic Ataxia in Korea

(2017) Kwang-Dong Choi et al.   Scientific Reports

Eye movement disorders are an early manifestation ofCACNA1Amutations in children

(2016) Esther M Tantsis et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Voltage-gated calcium channels and their auxiliary subunits: physiology and pathophysiology and pharmacology

(2016) Annette C. Dolphin   JOURNAL OF PHYSIOLOGY-LONDON

Structure of the voltage-gated calcium channel Cav1.1 at 3.6 Å resolution

(2016) Jianping Wu et al.   NATURE

A CaV2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant

(2016) Shehrazade Dahimene et al.   NEUROBIOLOGY OF DISEASE

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

(2016) Derek L. Weyhrauch et al.   PEDIATRIC NEUROLOGY

Next-generation sequencing identifies novelCACNA1Agene mutations in episodic ataxia type 2

(2016) Neven Maksemous et al.   Molecular Genetics & Genomic Medicine

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms

(2015) Lena Damaj et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Role of Auxiliary Subunits for the Functional Diversity of Voltage-Gated Calcium Channels

(2015) Marta Campiglio et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Abnormal cortical synaptic transmission in CaV2.1 knockin mice with the S218L missense mutation which causes a severe familial hemiplegic migraine syndrome in humans

(2015) Dania Vecchia et al.   Frontiers in Cellular Neuroscience

Ca2+ permeation and/or binding to CaV1.1 fine-tunes skeletal muscle Ca2+ signaling to sustain muscle function

(2015) Chang Lee et al.   Skeletal Muscle

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

(2015) Maria Isabel Bahamonde et al.   PLoS One

Exome analysis of connective tissue dysplasia: Death and rebirth of clinical genetics?

(2014) Golder N. Wilson   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The first knockin mouse model of episodic ataxia type 2

(2014) Samuel J. Rose et al.   EXPERIMENTAL NEUROLOGY

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

(2014) M. N. Di Guilmi et al.   JOURNAL OF NEUROSCIENCE

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

(2014) S. E. Soden et al.   Science Translational Medicine

Structure-function of proteins interacting with the α1 pore-forming subunit of high-voltage-activated calcium channels

(2014) Alan Neely et al.   Frontiers in Physiology

The familial hemiplegic migraine type 1 mutation K1336E affects direct G protein-mediated regulation of neuronal P/Q-type Ca2+ channels

(2013) Edgar Garza-López et al.   CEPHALALGIA

Evaluation of a Novel Calcium Channel Agonist for Therapeutic Potential in Lambert-Eaton Myasthenic Syndrome

(2013) T. B. Tarr et al.   JOURNAL OF NEUROSCIENCE

Zebrafish Calls for Reinterpretation for the Roles of P/Q Calcium Channels in Neuromuscular Transmission

(2013) H. Wen et al.   JOURNAL OF NEUROSCIENCE

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

(2013) Chihiro Ohba et al.   NEUROGENETICS

Screening ofCACNA1AandATP1A2genes in hemiplegic migraine: clinical, genetic, and functional studies

(2013) Oriel Carreño et al.   Molecular Genetics & Genomic Medicine

Treatment in Lambert-Eaton myasthenic syndrome

(2012) Paul Maddison   Annals of the New York Academy of Sciences

Familial hemiplegic migraine type 1 mutations W1684R and V1696I alter G protein-mediated regulation of CaV2.1 voltage-gated calcium channels

(2012) Edgar Garza-López et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Touch responsiveness in zebrafish requires voltage-gated calcium channel 2.1b

(2012) Sean E. Low et al.   JOURNAL OF NEUROPHYSIOLOGY

Cerebellar Ataxia by Enhanced CaV2.1 Currents Is Alleviated by Ca2+-Dependent K+-Channel Activators in Cacna1aS218L Mutant Mice

(2012) Z. Gao et al.   JOURNAL OF NEUROSCIENCE

Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS

(2012) Sanjeev Rajakulendran et al.   Nature Reviews Neurology

Detection of a Novel Mutation in the CACNA1A gene

(2012) Shani Stuart et al.   Twin Research and Human Genetics

New mutation of CACNA1A gene in episodic ataxia type 2

(2011) Koki Nikaido et al.   PEDIATRICS INTERNATIONAL

CaV2.1 P/Q-type calcium channel alternative splicing affects the functional impact of familial hemiplegic migraine mutations: Implications for calcium channelopathies

(2010) Paul J. Adams et al.   Channels

Congenital Ataxia, Mental Retardation, and Dyskinesia Associated With a Novel CACNA1A Mutation

(2010) Lubov Blumkin et al.   JOURNAL OF CHILD NEUROLOGY

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation

(2010) R. Romaniello et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Severe and Progressive Neurotransmitter Release Aberrations in Familial Hemiplegic Migraine Type 1 Cacna1a S218L Knock-in Mice

(2010) Simon Kaja et al.   JOURNAL OF NEUROPHYSIOLOGY

Different Relationship of N- and P/Q-Type Ca2+ Channels to Channel-Interacting Slots in Controlling Neurotransmission at Cultured Hippocampal Synapses

(2010) Y. Q. Cao et al.   JOURNAL OF NEUROSCIENCE

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy

(2010) Sanjeev Rajakulendran et al.   JOURNAL OF PHYSIOLOGY-LONDON

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

(2010) Elide Mantuano et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Fluctuating neuromuscular transmission defects and inverse acetazolamide response in episodic ataxia type 2 associated with the novel CaV2.1 single amino acid substitution R2090Q

(2010) Nico Melzer et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline

(2010) T. Freilinger et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine

(2010) F. Riant et al.   NEUROLOGY

Ion Channel Voltage Sensors: Structure, Function, and Pathophysiology

(2010) William A. Catterall   NEURON

CaV2.1 channelopathies

(2010) Daniela Pietrobon   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis

(2010) S. A. Serra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Gating Charge Transfer Center in Voltage Sensors

(2010) X. Tao et al.   SCIENCE

Recurrent Stroke Due to a Novel Voltage Sensor Mutation in Ca v 2.1 Responds to Verapamil

(2010) Ellen Knierim et al.   STROKE

High cortical spreading depression susceptibility and migraine-associated symptoms in Cav2.1 S218L mice

(2009) Arn M. J. M. van den Maagdenberg et al.   ANNALS OF NEUROLOGY

N Terminus Is Key to the Dominant Negative Suppression of CaV2 Calcium Channels

(2009) Karen M. Page et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood

(2009) P Bertholon et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene

(2009) Ester Cuenca-León et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

(2009) Selma A. Serra et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic Syndromes

(2008) E Cuenca-León et al.   CEPHALALGIA

Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation

(2008) D.I. Zafeiriou et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A Destructive Interaction Mechanism Accounts for Dominant-Negative Effects of Misfolded Mutants of Voltage-Gated Calcium Channels

(2008) A. Mezghrani et al.   JOURNAL OF NEUROSCIENCE

Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies

(2008) T. Miki et al.   NEUROSCIENCE

Stepwise Developmental Regression Associated With Novel CACNA1A Mutation

(2008) Andrea A. Guerin et al.   PEDIATRIC NEUROLOGY

The S218L familial hemiplegic migraine mutation promotes deinhibition of Cav2.1 calcium channels during direct G-protein regulation

(2008) Norbert Weiss et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY