Cargando…

Expanding the phenotype of CACNA1C mutation disorders

BACKGROUND: Pathogenic variants in the L‐type Ca(2+) channel gene CACNA1C cause a multi‐system disorder that includes severe long QT syndrome (LQTS), congenital heart disease, dysmorphic facial features, syndactyly, abnormal immune function, and neuropsychiatric disorders, collectively known as Timo...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gakenheimer‐Smith, Lindsey, Meyers, Lindsay, Lundahl, Derek, Menon, Shaji C., Bunch, T. Jared, Sawyer, Briana L., Tristani‐Firouzi, Martin, Etheridge, Susan P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222832/ https://www.ncbi.nlm.nih.gov/pubmed/33797204 http://dx.doi.org/10.1002/mgg3.1673

Ejemplares similares

Maternal mosaicism in long QT syndrome due to a pathogenic variant in KCNH2
por: Sawyer, Briana L., et al.
Publicado: (2020)

The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S
por: Kurokawa, Mari, et al.
Publicado: (2020)

The Application of Root Mean Square Electrocardiography (RMS ECG) for the Detection of Acquired and Congenital Long QT Syndrome
por: Lux, Robert L., et al.
Publicado: (2014)

From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing
por: Indelicato, Elisabetta, et al.
Publicado: (2021)

New CACNA1A deletions are associated to migraine phenotypes
por: Grieco, G. S., et al.
Publicado: (2018)

Hypokalemic periodic paralysis due to CACNA1S gene mutation
por: Alhasan, Khalid A., et al.
Publicado: (2019)

Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature
por: Marinella, Gemma, et al.
Publicado: (2023)

CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism
por: Daniil, Georgios, et al.
Publicado: (2016)

Poor mother-offspring relationships in rats with Cacna1a mutation
por: Kawakami, Nozomi, et al.
Publicado: (2019)

Mutation analysis of CACNA1A gene in Iranian migrainous and review literatures
por: Meamar, Rokhsareh, et al.
Publicado: (2013)

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia
por: Sintas, Cèlia, et al.
Publicado: (2017)

Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy
por: Carter, Melissa T., et al.
Publicado: (2019)

CACNA1H Calcium Channel Mutations in Primary Aldosteronism – Is Sodium the Culprit?
por: Stölting, Gabriel, et al.
Publicado: (2020)

CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications
por: Li, Xue-Lian, et al.
Publicado: (2022)

Sporadic Hemiplegic Migraine with CACNA1A Mutation Masquerading as Acute Meningoencephalitis
por: Gajam, Siddhartha, et al.
Publicado: (2022)

A Mutation in CACNA1S Is Associated with Multiple Supernumerary Cusps and Root Maldevelopment
por: Kantaputra, Piranit, et al.
Publicado: (2023)

Association of single nucleotide polymorphisms in CACNA 1A/CACNA 1C/CACNA 1H calcium channel genes with diabetic peripheral neuropathy in Chinese population
por: Sun, Lin, et al.
Publicado: (2018)

Do Copy Number Changes in CACNA2D2, CACNA2D3, and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer’s Disease?
por: Villela, Darine, et al.
Publicado: (2016)

Case report: A novel CACNA1S mutation associated with hypokalemic periodic paralysis
por: Nuzhnyi, Evgenii P., et al.
Publicado: (2023)

Next‐generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2
por: Maksemous, Neven, et al.
Publicado: (2016)

Phenotypic Characterization of Larval Zebrafish (Danio rerio) with Partial Knockdown of the cacna1a Gene
por: Gawel, Kinga, et al.
Publicado: (2019)

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes
por: Zhang, Linxia, et al.
Publicado: (2020)

Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature
por: Schaare, Donna, et al.
Publicado: (2023)

A rare mutation of CACNA1C in a patient with Bipolar disorder, and decreased gene expression associated with a Bipolar-associated common SNP of CACNA1C in brain
por: Gershon, Elliot S., et al.
Publicado: (2013)

Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation
por: Nugud, Ahmed A., et al.
Publicado: (2021)

Modification of hERG1 channel gating by Cd(2+)
por: Abbruzzese, Jennifer, et al.
Publicado: (2010)

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
por: Ilkovski, Biljana, et al.
Publicado: (2015)

Delineating the expanding phenotype associated with SCAPER gene mutation
por: Fasham, James, et al.
Publicado: (2019)

The role of CACNA1S in predisposition to malignant hyperthermia
por: Carpenter, Danielle, et al.
Publicado: (2009)

The electrophysiological footprint of CACNA1A disorders
por: Indelicato, Elisabetta, et al.
Publicado: (2021)

A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy
por: Vila-Pueyo, M, et al.
Publicado: (2013)

Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy
por: Berecki, Géza, et al.
Publicado: (2020)

Splice-variant specific effects of a CACNA1H mutation associated with writer’s cramp
por: Souza, Ivana A., et al.
Publicado: (2021)

Two Children with Early-Onset Strokes and Intractable Epilepsy, Both with CACNA1A Mutations
por: Bolte, Kristen N., et al.
Publicado: (2022)

Identification of a novel CACNA1F mutation in a Chinese family with CORDX3
por: Du, Meng, et al.
Publicado: (2022)

Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review
por: Alzahrani, Alshaimaa, et al.
Publicado: (2023)

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy
por: Pippucci, Tommaso, et al.
Publicado: (2013)

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy
por: Pinggera, Alexandra, et al.
Publicado: (2017)

Peptide-Based Targeting of the L-Type Calcium Channel Corrects the Loss-of-Function Phenotype of Two Novel Mutations of the CACNA1 Gene Associated With Brugada Syndrome
por: Di Mauro, Vittoria, et al.
Publicado: (2021)

Smart Wearables for Cardiac Monitoring—Real-World Use beyond Atrial Fibrillation
por: Duncker, David, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_p081g3m9c7r6pef99i8j0u3qu6