CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms
出版年份 2015 全文链接
标题
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 23, Issue 11, Pages 1505-1512
出版商
Springer Nature
发表日期
2015-03-04
DOI
10.1038/ejhg.2015.21
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- The genetic landscape of infantile spasms
- (2014) Jacques L. Michaud et al. HUMAN MOLECULAR GENETICS
- Apparent Germline Mosaicism for a Novel 19p13.13 Deletion DisruptingNFIXandCACNA1A
- (2013) Manjunath Nimmakayalu et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Postnatal Loss of P/Q-Type Channels Confined to Rhombic-Lip-Derived Neurons Alters Synaptic Transmission at the Parallel Fiber to Purkinje Cell Synapse and Replicates Genomic Cacna1a Mutation Phenotype of Ataxia and Seizures in Mice
- (2013) T. Maejima et al. JOURNAL OF NEUROSCIENCE
- De novo mutations in epileptic encephalopathies
- (2013) et al. NATURE
- Applying tensor-based morphometry to parametric surfaces can improve MRI-based disease diagnosis
- (2013) Yalin Wang et al. NEUROIMAGE
- Silencing the Majority of Cerebellar Granule Cells Uncovers Their Essential Role in Motor Learning and Consolidation
- (2013) Elisa Galliano et al. Cell Reports
- Long-term Outcome of Cognitive Functions, Emotional Behavior, and Quality of Life in a Family With Familial Hemiplegic Migraine
- (2012) Elfriede Karner et al. Cognitive and Behavioral Neurology
- Calcium Microdomains Near R-Type Calcium Channels Control the Induction of Presynaptic Long-Term Potentiation at Parallel Fiber to Purkinje Cell Synapses
- (2011) M. H. Myoga et al. JOURNAL OF NEUROSCIENCE
- 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
- Genetics and Function of Neocortical GABAergic Interneurons in Neurodevelopmental Disorders
- (2011) E. Rossignol NEURAL PLASTICITY
- 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
- 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
- Gamma Oscillations in the Hippocampus
- (2010) Laura Lee Colgin et al. PHYSIOLOGY
- Segregated Fronto-Cerebellar Circuits Revealed by Intrinsic Functional Connectivity
- (2009) Fenna M. Krienen et al. CEREBRAL CORTEX
- 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
- 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
- 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
- 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
- Parvalbumin neurons and gamma rhythms enhance cortical circuit performance
- (2009) Vikaas S. Sohal et al. NATURE
- Driving fast-spiking cells induces gamma rhythm and controls sensory responses
- (2009) Jessica A. Cardin et al. NATURE
- Enhanced tonic GABAA inhibition in typical absence epilepsy
- (2009) David W Cope et al. NATURE MEDICINE
- Identification of CACNA1A large deletions in four patients with episodic ataxia
- (2009) Florence Riant et al. NEUROGENETICS
- 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
- Neuregulin-1 Modulates Hippocampal Gamma Oscillations: Implications for Schizophrenia
- (2008) André Fisahn et al. CEREBRAL CORTEX
- The DLX1and DLX2 genes and susceptibility to autism spectrum disorders
- (2008) Xudong Liu et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Spatial learning deficit in aged heterozygous Cav2.1 channel mutant mice, rolling mouse Nagoya
- (2008) Eiki Takahashi et al. EXPERIMENTAL GERONTOLOGY
- Impact of theleanerP/Q-type Ca2+channel mutation on excitatory synaptic transmission in cerebellar Purkinje cells
- (2008) Shaolin Liu et al. JOURNAL OF PHYSIOLOGY-LONDON
- Perisomatic GABA Release and Thalamocortical Integration onto Neocortical Excitatory Cells Are Regulated by Neuromodulators
- (2008) Illya Kruglikov et al. NEURON
- Stepwise Developmental Regression Associated With Novel CACNA1A Mutation
- (2008) Andrea A. Guerin et al. PEDIATRIC NEUROLOGY
- Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant
- (2007) Isabel Alonso et al. NEUROBIOLOGY OF AGING
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