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Biallelic CACNA1A variants: Review of literature and report of a child with drug-resistant epilepsy and developmental delay

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022)

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Article Clinical Neurology

The complexities of CACNA1A in clinical neurogenetics

Marina P. Hommersom et al.

Summary: Variants in the CACNA1A gene can lead to various phenotypes beyond the classic ataxia-related disorders, presenting challenges in neurogenetic diagnostics. Accessible functional read-outs are crucial for cases with non-classic phenotypes.

JOURNAL OF NEUROLOGY (2022)

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Genotype-phenotype correlation of CACNA1A variants in children with epilepsy

Xueyang Niu et al.

Summary: Children with epilepsy and CACNA1A variants commonly exhibit early onset of seizures, developmental delay, and various seizure types. Focal seizures are the most common type, with many patients experiencing status epilepticus. Unilateral cerebral atrophy can occur after focal motor status epilepticus, particularly in patients with variants in the transmembrane region of CACNA1A.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2022)

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Article Biochemistry & Molecular Biology

The CACNA1A Mutant Disrupts Lysosome Calcium Homeostasis in Cerebellar Neurons and the Resulting Endo-Lysosomal Fusion Defect Can be Improved by Calcium Modulation

Feng Zhu et al.

Summary: Mutations in the P/Q type voltage gated calcium channel (VGCC) gene, CACNA1A, lead to severe neurological diseases in humans. Studies on mutant mice have revealed that these mutations affect lysosomal calcium storage in neurons, leading to axonal degeneration in the cerebellum. Treatment with calcium modulating drugs can alleviate lysosomal dysfunction in mutant neurons, providing potential directions for pharmacological treatment of these neurodegenerative diseases.

NEUROCHEMICAL RESEARCH (2022)

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Article Clinical Neurology

Clinical phenotypes of infantile onset CACNA1A-related disorder

Tamar Gur-Hartman et al.

Summary: The study revealed that the phenotypes in infantile-onset CACNA1A-related disorders mainly include cerebellar ataxia and paroxysmal non-epileptic events, with overlap in the majority of patients. Some patients may develop epilepsy in later childhood.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2021)

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Article Clinical Neurology

Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features

Pin-Yi Ko et al.

Summary: Novel missense variants in CACNA1A were found in a family with varying severity of ataxia, neurobehavioral impairments, and epilepsy. The most severe outcome was seen in a compound heterozygous proband, with effective seizure control achieved using acetazolamide and lamotrigine.

NEUROPEDIATRICS (2021)

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Article Biochemistry & Molecular Biology

Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2

A. Arteche-Lopez et al.

Summary: This study identified families with co-dominant or recessive inheritance in genes previously associated with dominant inheritance, showing more severe or different phenotypes than their dominant counterparts. Patients harbored homozygous disease-related variants in three genes, resulting in a more severe clinical phenotype. It is suggested that geneticists should be aware of different forms of inheritance in genes to improve WES diagnostic capacity.

EUROPEAN JOURNAL OF HUMAN GENETICS (2021)

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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)

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Article Clinical Neurology

Cognitive impairment in children with CACNA1A mutations

Veronique Humbertclaude et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2020)

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Article Clinical Neurology

Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission

Hanna C. A. Lammertse et al.

BRAIN (2020)

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

Chloe Angelini et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2019)

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Article Genetics & Heredity

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Kathleen M. Gorman et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

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Article Clinical Neurology

Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome

Xiao Jiang et al.

EPILEPSIA (2019)

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Review Neurosciences

Presynaptic calcium channels

Sumiko Mochida

NEUROSCIENCE RESEARCH (2018)

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Article Clinical Neurology

Dramatic response to pyridoxine in a girl with absence epilepsy with ataxia caused by a de novo CACNA1A mutation

Xiaoping Du et al.

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2017)

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Article Clinical Neurology

Identification of a novel CACNAIA mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy

Yudan Lv et al.

NEUROPSYCHIATRIC DISEASE AND TREATMENT (2017)

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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)

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Article Genetics & Heredity

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

Karit Reinson et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)

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Article Clinical Neurology

Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant

Heather M. Byers et al.

PEDIATRIC NEUROLOGY (2016)

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Review Clinical Neurology

The evolving spectrum of PRRT2-associated paroxysmal diseases

Darius Ebrahimi-Fakhari et al.

BRAIN (2015)

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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)

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Article Genetics & Heredity

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

Sue Richards et al.

GENETICS IN MEDICINE (2015)

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