4.6 Review

Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature

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 Genetics & Heredity

A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness

Usman Mahmood et al.

Summary: CACNA1F-related disorders consist of progressive and non-progressive conditions, including Angstrom Land Island eye disease and incomplete congenital stationary night blindness. A novel splice-site variant in the CACNA1F gene was identified in a 13-year-old boy, leading to phenotypic similarities with Angstrom Land Island eye disease and incomplete congenital stationary night blindness. This finding expands our understanding of CACNA1F-related diseases.
Article Neurosciences

The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

Maria A. Gandini et al.

Summary: Pathogenic variants in CACNA1A gene are associated with various neurological disorders, including familial hemiplegic migraine, cerebellar conditions, and early onset developmental encephalopathies. Patients with such variants exhibit symptoms such as headaches, motor impairments, and developmental delays. The mutation site in the CaV2.1 channel's S5 segment leads to loss of channel function and structural damage.

MOLECULAR BRAIN (2021)

Review Genetics & Heredity

Calcium channelopathies and intellectual disability: a systematic review

Miriam Kessi et al.

Summary: Calcium channelopathies play a significant role in the development of intellectual disability and global developmental delay. Variations in calcium channel genes, particularly gain-of-function variants, are associated with more severe cases of ID/GDD. Mechanisms underlying the involvement of calcium channels in ID/GDD, as well as potential treatment options, still require further investigation.

ORPHANET JOURNAL OF RARE DISEASES (2021)

Review Medicine, General & Internal

The PRISMA 2020 statement: an updated guideline for reporting systematic reviews

Matthew J. Page et al.

Summary: The PRISMA statement was designed to help systematic reviewers transparently report the purpose, methods, and findings of their reviews. The updated PRISMA 2020 statement includes new reporting guidance, a 27-item checklist, an abstract checklist, and revised flow diagrams for reviews.

BMJ-BRITISH MEDICAL JOURNAL (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 Genetics & Heredity

Diagnostic yield of targeted next-generation sequencing in infantile nystagmus syndrome

Jae-Hwan Choi et al.

Summary: This study utilized targeted next-generation sequencing for diagnostic analysis of infantile nystagmus syndrome, identifying 13 potential pathogenic variants with a 35% molecular diagnostic rate. Family history showed the highest predictive power for molecular diagnosis.

OPHTHALMIC GENETICS (2021)

Article Physiology

Cav1.4 dysfunction and congenital stationary night blindness type 2

Alexandra Koschak et al.

Summary: Cav1.4 L-type Ca2+ channels, predominantly expressed in retinal neurons, play an essential role in continuous neurotransmitter release at ribbon synapses. Mutations in the CACNA1F gene encoding these channels are associated with X-linked retinal disorders. Research has shown the significance of Cav1.4 channels in synaptic function at retinal neurons.

PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2021)

Article Genetics & Heredity

Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients

Hyeong-Min Kim et al.

Summary: This study investigated the clinical and genetic characteristics of 19 Korean patients with congenital stationary night blindness (CSNB) at two tertiary hospitals. Different genetic mutations were found to be associated with different types of CSNB, and 10 novel variants were identified. Further studies with a larger number of subjects are needed to explore the clinical and genetic aspects of CSNB.
Article Clinical Neurology

R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

Anker Stubberud et al.

Summary: Mutations in the CACNA1A gene can cause a variety of neurological disorders, including hemiplegic migraine, with minor head trauma as a triggering factor. Patients can be tested for mutations and advised to avoid head injuries.

CASE REPORTS IN NEUROLOGY (2021)

Article Clinical Neurology

Cognitive impairment in children with CACNA1A mutations

Veronique Humbertclaude et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2020)

Article Pediatrics

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes

Linxia Zhang et al.

FRONTIERS IN PEDIATRICS (2020)

Review Immunology

What's Bred in the Bone: Calcium Channels in Lymphocytes

Franz Fenninger et al.

JOURNAL OF IMMUNOLOGY (2019)

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)

Article Ophthalmology

Ocular Dipping in a Patient With Hemiplegic Migraine

Iga N. Gray et al.

JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS (2018)

Article Genetics & Heredity

Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy

Francesca Pasutto et al.

OPHTHALMIC GENETICS (2018)

Review Clinical Neurology

Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications

P. Prontera et al.

CEPHALALGIA (2018)

Article Biochemistry & Molecular Biology

Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing

Mervyn G. Thomas et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2017)

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 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 Biochemistry & Molecular Biology

Essential roles for Cavβ2 and Cav1 channels in thymocyte development and T cell homeostasis

Archana Jha et al.

SCIENCE SIGNALING (2015)

Article Biochemistry & Molecular Biology

Essential roles for Cavβ2 and Cav1 channels in thymocyte development and T cell homeostasis

Archana Jha et al.

SCIENCE SIGNALING (2015)

Article Clinical Neurology

Possible Effect of Corticoids on Hemiplegic Attacks in Severe Hemiplegic Migraine

Iciar Sanchez-Albisua et al.

PEDIATRIC NEUROLOGY (2013)

Review Immunology

Emerging roles of L-type voltage-gated and other calcium channels in T lymphocytes

Abdallah Badou et al.

FRONTIERS IN IMMUNOLOGY (2013)

Article Genetics & Heredity

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies

Oriel Carreno et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2013)

Article Clinical Neurology

Sporadic hemiplegic migraine presenting as acute encephalopathy

Kayo Ohmura et al.

BRAIN & DEVELOPMENT (2012)

Article Clinical Neurology

R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update

Andrea Di Cristofori et al.

JOURNAL OF HEADACHE AND PAIN (2012)

Letter Clinical Neurology

Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation

Timothy J. Malpas et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)

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 Genetics & Heredity

CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine

A. H. Stam et al.

CLINICAL GENETICS (2008)

Article Biochemistry & Molecular Biology

Voltage-gated calcium channels in genetic diseases

Isabelle Bidaud et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2006)

Article Clinical Neurology

Minor head trauma-induced sporadic hemiplegic migraine coma

RP Curtain et al.

PEDIATRIC NEUROLOGY (2006)

Article Biochemistry & Molecular Biology

Molecular characterization of L-type calcium channel splice variants expressed in human T lymphocytes

MF Kotturi et al.

MOLECULAR IMMUNOLOGY (2005)

Article Genetics & Heredity

Mutations in the CACNA1F and NYX Genes in British CSNBX Families

Ilaria Zito et al.

HUMAN MUTATION (2003)

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)