The complexities of CACNA1A in clinical neurogenetics

The electrophysiological footprint of CACNA1A disorders

(2021) Elisabetta Indelicato et al.   JOURNAL OF NEUROLOGY

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

(2021) Elisabetta Indelicato et al.   Frontiers in Neurology

Epilepsy and episodic ataxia type 2: family study and review of the literature

(2021) Lorenzo Verriello et al.   JOURNAL OF NEUROLOGY

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

(2021) Marie Le Roux et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The Pathophysiology and Clinical Manifestations of Spinocerebellar Ataxia Type 6

(2020) Zubir Rentiya et al.   CEREBELLUM

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

(2020) Sidharth Tyagi et al.   Frontiers in Molecular Neuroscience

Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant

(2020) Rosaria Nardello et al.   BMC Neurology

Progressive Ataxia with Hemiplegic Migraines: a Phenotype of CACNA1A Missense Mutations, Not CAG Repeat Expansions

(2020) Kevin R. Duque et al.   CEREBELLUM

Two cases with postural axial tremor: Consider a genetic origin

(2020) R. Zutt et al.   PARKINSONISM & RELATED DISORDERS

Cognitive impairment in children with CACNA 1A mutations

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

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

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

(2018) Takuya Hayashida et al.   BRAIN & DEVELOPMENT

Episodic syndromes of childhood associated with migraine

(2018) Amy A. Gelfand   CURRENT OPINION IN NEUROLOGY

Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders

(2018) Véronique Humbertclaude et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Transient benign paroxysmal movement disorders in infancy

(2018) Emilio Fernández-Alvarez   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

(2018) Chloé Angelini et al.   European Journal of Medical Genetics

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

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

CaV2.1 α1 Subunit Expression Regulates Presynaptic CaV2.1 Abundance and Synaptic Strength at a Central Synapse

(2018) Matthias Lübbert et al.   NEURON

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

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

Cognitive disorders in patients with CACNA1A mutations

(2017) Roubertie Agathe et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

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

BiallelicCACNA1Amutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

(2016) Karit Reinson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Eye movement disorders are an early manifestation ofCACNA1Amutations in children

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

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

(2016) Rolph Pfundt et al.   GENETICS IN MEDICINE

Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation

(2016) Luca Pradotto et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Pearls & Oy-sters: Episodic ataxia type 2

(2016) Elan L. Guterman et al.   NEUROLOGY

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene

(2016) Roderick P.P.W.M. Maas 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

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

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

(2014) Wolfgang Nachbauer et al.   JOURNAL OF NEUROLOGY

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A

(2014) Nuria García Segarra et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6

(2013) Kathrin Reetz et al.   BRAIN

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

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

(2013) M Vila-Pueyo et al.   JOURNAL OF HEADACHE AND PAIN

A novelCACNA1Amutation associated with adult-onset, paroxysmal head tremor

(2013) Anna Molloy et al.   MOVEMENT DISORDERS

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

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

(2011) Michael Bjørn Russell et al.   LANCET NEUROLOGY

Early-Onset Cerebellar Atrophy Associated With Mutation in the CACNA1A Gene

(2011) Swati Naik et al.   PEDIATRIC NEUROLOGY

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

Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation

(2010) Andro Zangaladze et al.   EPILEPSY & BEHAVIOR

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

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

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

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

CaV2.1 channelopathies

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

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

Identification of CACNA1A large deletions in four patients with episodic ataxia

(2009) Florence Riant et al.   NEUROGENETICS

Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6

(2009) Jörg B. Schulz et al.   NEUROIMAGE

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

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

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

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

Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6

(2008) Christoph Globas et al.   MOVEMENT DISORDERS

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