标题
The complexities of CACNA1A in clinical neurogenetics
作者
关键词
-
出版物
JOURNAL OF NEUROLOGY
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2021-11-22
DOI
10.1007/s00415-021-10897-9
参考文献
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 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
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