4.7 Article

The complexities of CACNA1A in clinical neurogenetics

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。
Article Neurosciences

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

Kevin R. Duque et al.

Summary: A 52-year-old woman with autosomal dominant progressive cerebellar ataxia and familial hemiplegic migraine type 1 was found to have a pathogenic missense mutation in CACNA1A. Literature review suggests that this mutation is associated with progressive ataxia and hemiplegic migraine.

CEREBELLUM (2021)

Article Clinical Neurology

The electrophysiological footprint of CACNA1A disorders

Elisabetta Indelicato et al.

Summary: EEG abnormalities are common in episodic CACNA1A disorders, particularly associated with younger age and earlier disease onset. In contrast, CACNA1A-negative phenocopies show largely unremarkable EEG findings, highlighting the impact of CACNA1A variants on neurological disorders.

JOURNAL OF NEUROLOGY (2021)

Review Clinical Neurology

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

Elisabetta Indelicato et al.

Summary: Ion channel dysfunction is a key pathological substrate of episodic neurological disorders, with different CACNA1A variants leading to various clinical manifestations that can significantly impact diagnostic work.

FRONTIERS IN NEUROLOGY (2021)

Article Clinical Neurology

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

Lorenzo Verriello et al.

Summary: Episodic ataxia type 2 (EA2) is a rare hereditary disorder characterized by paroxysmal attacks of ataxia, vertigo, and nausea, with associated symptoms such as migraines and epilepsy. Mutations in the CACNA1A gene exhibit variable clinical phenotypes and are associated with increased thalamocortical excitation contributing to epileptiform discharges. Suspecting mutations in the CACNA1A gene is important in individuals with epilepsy and a family history of episodic ataxia.

JOURNAL OF NEUROLOGY (2021)

Article Clinical Neurology

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

Marie Le Roux et al.

Summary: CACNA1A pathogenic mutations are associated with various neurological phenotypes, including epilepsy. This study found that patients carrying CACNA1A mutations exhibit severe early onset seizures, accompanied by cerebellar dysfunction and intellectual developmental delay.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2021)

Article Clinical Neurology

Cognitive impairment in children with CACNA1A mutations

Veronique Humbertclaude et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2020)

Article Clinical Neurology

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

Annegret Quade et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2020)

Review Neurosciences

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

Sidharth Tyagi et al.

FRONTIERS IN MOLECULAR NEUROSCIENCE (2020)

Article Clinical Neurology

Two cases with postural axial tremor: Consider a genetic origin

R. Zutt et al.

PARKINSONISM & RELATED DISORDERS (2020)

Article Genetics & Heredity

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

Chloe Angelini et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2019)

Article Clinical Neurology

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

Takuya Hayashida et al.

BRAIN & DEVELOPMENT (2018)

Review Clinical Neurology

Episodic syndromes of childhood associated with migraine

Amy A. Gelfand

CURRENT OPINION IN NEUROLOGY (2018)

Article Clinical Neurology

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

Veronique Humbertclaude et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2018)

Review Clinical Neurology

Transient benign paroxysmal movement disorders in infancy

Emilio Fernandez-Alvarez

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2018)

Article Clinical Neurology

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

Lorena Travaglini et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2017)

Article Pediatrics

Cognitive disorders in patients with CACNA1A mutations

Roubertie Agathe et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2017)

Article Genetics & Heredity

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

Candace T. Myers et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Clinical Neurology

Eye movement disorders are an early manifestation of CACNA1A mutations in children

Esther M. Tantsis et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2016)

Article Clinical Neurology

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

Luca Pradotto et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2016)

Article Multidisciplinary Sciences

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

Monkol Lek et al.

NATURE (2016)

Editorial Material Clinical Neurology

Pearls & Oy-sters: Episodic ataxia type 2: Case report and review of the literature

Elan L. Guterman et al.

NEUROLOGY (2016)

Article Clinical Neurology

Episodic Ataxias: Clinical and Genetic Features

Kwang-Dong Choi et al.

JOURNAL OF MOVEMENT DISORDERS (2016)

Article Biochemistry & Molecular Biology

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

Lena Damaj et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Clinical Neurology

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

Lubov Blumkin et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2015)

Meeting Abstract Clinical Neurology

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

M. Vila-Pueyo et al.

JOURNAL OF HEADACHE AND PAIN (2013)

Letter Clinical Neurology

A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor

Anna Molloy et al.

MOVEMENT DISORDERS (2013)

Article Biochemistry & Molecular Biology

Copy number variation detection and genotyping from exome sequence data

Niklas Krumm et al.

GENOME RESEARCH (2012)

Article Clinical Neurology

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

Swati Naik et al.

PEDIATRIC NEUROLOGY (2011)

Article Clinical Neurology

Large genomic deletions in CACNA1A cause episodic ataxia type 2

Jijun Wan

Frontiers in Neurology (2011)

Article Behavioral Sciences

Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation

Andro Zangaladze et al.

EPILEPSY & BEHAVIOR (2010)

Article Clinical Neurology

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

Lubov Blumkin et al.

JOURNAL OF CHILD NEUROLOGY (2010)

Article Neurosciences

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

Sanjeev Rajakulendran et al.

JOURNAL OF PHYSIOLOGY-LONDON (2010)

Article Genetics & Heredity

Identification of CACNA1A large deletions in four patients with episodic ataxia

Florence Riant et al.

NEUROGENETICS (2010)

Review Physiology

CaV2.1 channelopathies

Daniela Pietrobon

PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2010)

Article Clinical Neurology

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

A. H. Stam et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2009)

Article Clinical Neurology

Large CACNA1A deletion in a family with episodic ataxia type 2

Florence Riant et al.

ARCHIVES OF NEUROLOGY (2008)

Article Clinical Neurology

Early Symptoms in Spinocerebellar Ataxia Type 1, 2, 3, and 6

Christoph Globas et al.

MOVEMENT DISORDERS (2008)

Article Clinical Neurology

Functional implications of a novel EA2 mutation in the P/Q-type calcium channel

SD Spacey et al.

ANNALS OF NEUROLOGY (2004)

Article Multidisciplinary Sciences

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)

Article Medicine, General & Internal

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)

Article Biochemistry & Molecular Biology

Three new familial hemiplegic migraine mutants affect P/Q-type Ca2+ channel kinetics

RL Kraus et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2000)