From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing

The electrophysiological footprint of CACNA1A disorders

(2021) Elisabetta Indelicato et al.   JOURNAL OF NEUROLOGY

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

(2020) Claudia Stendel et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Ion channels involvement in neurodevelopmental disorders

(2020) Maria Cristina D'Adamo et al.   NEUROSCIENCE

Novel CACNA1A variant may cause cervical dystonia and cerebellar ataxia syndrome

(2020) A. Fuerte-Hortigón et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience

(2020) Nandini Mitta et al.   EPILEPSY RESEARCH

Clinical phenotypes of infantile onset CACNA1A-related disorder

(2020) Tamar Gur-Hartman et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2

(2020) Fanny Jaudon et al.   Biomedicines

α1ACT Is Essential for Survival and Early Cerebellar Programming in a Critical Neonatal Window

(2019) Xiaofei Du et al.   NEURON

Cognitive impairment in children with CACNA 1A mutations

(2019) Veronique Humbertclaude et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders

(2019) Toshiyuki Yamamoto et al.   BRAIN & DEVELOPMENT

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

Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition

(2019) Annegret Quade et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Adult loss of Cacna1a in mice recapitulates childhood absence epilepsy by distinct thalamic bursting mechanisms

(2019) Qing-Long Miao et al.   BRAIN

CACNA1A -related early-onset encephalopathy with myoclonic epilepsy: A case report

(2018) Takuya Hayashida et al.   BRAIN & DEVELOPMENT

An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A

(2018) Madison V. Epperson et al.   JOURNAL OF CHILD NEUROLOGY

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

(2018) Nadine Pelzer et al.   NEUROLOGY

Calcium Channels, Synaptic Plasticity, and Neuropsychiatric Disease

(2018) Evanthia Nanou et al.   NEURON

The cerebellum and cognition

(2018) Jeremy D. Schmahmann   NEUROSCIENCE LETTERS

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

Voltage-Dependent Calcium Channels, Calcium Binding Proteins, and Their Interaction in the Pathological Process of Epilepsy

(2018) Jie-Hua Xu et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Brainstem spreading depolarization and cortical dynamics during fatal seizures in Cacna1a S218L mice

(2018) Inge C M Loonen et al.   BRAIN

Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A

(2017) Alexander Balck et al.   JOURNAL OF NEUROLOGY

The Cerebellum: Adaptive Prediction for Movement and Cognition

(2017) Arseny A. Sokolov et al.   TRENDS IN COGNITIVE SCIENCES

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

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

(2016) Candace T. Myers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Eye movement disorders are an early manifestation ofCACNA1Amutations in children

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

The Genetics of Benign Paroxysmal Torticollis of Infancy

(2016) Meyeon Shin et al.   JOURNAL OF CHILD NEUROLOGY

Isolated P/Q Calcium Channel Deletion in Layer VI Corticothalamic Neurons Generates Absence Epilepsy

(2016) V. C. Bomben et al.   JOURNAL OF NEUROSCIENCE

The genetic landscape of the epileptic encephalopathies of infancy and childhood

(2016) Amy McTague et al.   LANCET NEUROLOGY

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

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

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

Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine

(2015) S. Kinder et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A

(2015) Lubov Blumkin et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A

(2015) Jae-Hwan Choi et al.   NEUROLOGICAL SCIENCES

A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy

(2014) Marta Vila-Pueyo et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature

(2014) Wolfgang Nachbauer et al.   JOURNAL OF NEUROLOGY

Apparent Germline Mosaicism for a Novel 19p13.13 Deletion DisruptingNFIXandCACNA1A

(2013) Manjunath Nimmakayalu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Second Cistron in CACNA1A Gene Encodes a Transcription Factor Mediating Cerebellar Development and SCA6

(2013) Xiaofei Du et al.   CELL

The International Classification of Headache Disorders, 3rd edition (beta version)

(2013)   CEPHALALGIA

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

Possible Effect of Corticoids on Hemiplegic Attacks in Severe Hemiplegic Migraine

(2013) Iciar Sánchez-Albisua et al.   PEDIATRIC NEUROLOGY

Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2

(2013) Yafang Hu et al.   PLoS One

Ablation of CaV2.1 Voltage-Gated Ca2+ Channels in Mouse Forebrain Generates Multiple Cognitive Impairments

(2013) Robert Theodor Mallmann et al.   PLoS One

Control of neuronal voltage-gated calcium ion channels from RNA to protein

(2013) Diane Lipscombe et al.   TRENDS IN NEUROSCIENCES

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Familial and Sporadic Hemiplegic Migraine: Diagnosis and Treatment

(2012) Nadine Pelzer et al.   Current Treatment Options in Neurology

Voltage-gated sodium channels at 60: structure, function and pathophysiology

(2012) William A. Catterall   JOURNAL OF PHYSIOLOGY-LONDON

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

(2012) Sanjeev Rajakulendran et al.   Nature Reviews Neurology

Delayed Postnatal Loss of P/Q-Type Calcium Channels Recapitulates the Absence Epilepsy, Dyskinesia, and Ataxia Phenotypes of Genomic Cacna1A Mutations

(2011) M. D. Mark et al.   JOURNAL OF NEUROSCIENCE

Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management

(2011) Michael Bjørn Russell et al.   LANCET NEUROLOGY

Voltage-Gated Calcium Channels

(2011) W. A. Catterall   Cold Spring Harbor Perspectives in Biology

Phenotypic Variability of Episodic Ataxia Type 2 Mutations: A Family Study

(2010) Julien Jung et al.   EUROPEAN NEUROLOGY

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

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

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

Contribution of calcium-dependent facilitation to synaptic plasticity revealed by migraine mutations in the P/Q-type calcium channel

(2010) P. J. Adams et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

The FHM1 Mutation S218L: A Severe Clinical Phenotype? A Case Report and Review of the Literature

(2009) S Debiais et al.   CEPHALALGIA

CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine

(2009) AH Stam et al.   CLINICAL GENETICS

Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation

(2009) Timothy J Malpas et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 includingCACNA1Aassociated with mental retardation and epilepsy with infantile spasms

(2009) Stéphane Auvin et al.   EPILEPSIA

The Neurology of Benign Paroxysmal Torticollis of Infancy: Report of 10 New Cases and Review of the Literature

(2009) N. Paul Rosman et al.   JOURNAL OF CHILD NEUROLOGY

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing

(2009) R W Labrum et al.   JOURNAL OF MEDICAL GENETICS

Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation

(2009) A H Stam et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

Genetic Enhancement of Thalamocortical Network Activity by Elevating  1G-Mediated Low-Voltage-Activated Calcium Current Induces Pure Absence Epilepsy

(2009) W. L. Ernst et al.   JOURNAL OF NEUROSCIENCE

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

Large CACNA1A Deletion in a Family With Episodic Ataxia Type 2

(2008) Florence Riant et al.   ARCHIVES OF NEUROLOGY

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

(2008) E Cuenca-León et al.   CEPHALALGIA

The clinical diagnosis of autosomal dominant spinocerebellar ataxias

(2008) Thomas Klockgether   CEREBELLUM

Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation

(2008) Yee-Cheun Chan et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family

(2008) A. Roubertie et al.   JOURNAL OF NEUROLOGY

Calcium Signaling in Dendrites and Spines: Practical and Functional Considerations

(2008) Michael J. Higley et al.   NEURON

Stepwise Developmental Regression Associated With Novel CACNA1A Mutation

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