- Home
- Publications
- Publication Search
- Publication Details
Title
Cognitive impairment in children with
CACNA
1A
mutations
Authors
Keywords
-
Journal
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2019-05-22
DOI
10.1111/dmcn.14261
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
- 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
- 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
- De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
- (2016) Candace T. Myers et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?
- (2016) Francesca Camia et al. CEPHALALGIA
- 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
- 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
- Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A
- (2015) Lubov Blumkin et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- 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
- The International Classification of Headache Disorders, 3rd edition (beta version)
- (2013) CEPHALALGIA
- 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
- 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
- Identification of CACNA1A large deletions in four patients with episodic ataxia
- (2009) Florence Riant et al. NEUROGENETICS
- Genetic Analysis of 27 Spanish Patients with Hemiplegic Migraine, Basilar-Type Migraine and Childhood Periodic Syndromes
- (2008) E Cuenca-León et al. CEPHALALGIA
- Expansion of the Phenotypic Spectrum of the CACNA1A T666M Mutation: A Family with Familial Hemiplegic Migraine Type 1, Cerebellar Atrophy and Mental Retardation
- (2008) T Freilinger 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
- Stepwise Developmental Regression Associated With Novel CACNA1A Mutation
- (2008) Andrea A. Guerin et al. PEDIATRIC NEUROLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started