Cargando…

A Novel KCNA1 Mutation in an Episodic Ataxia Type 1 Patient with Asterixis and Falls

Detalles Bibliográficos
Autores principales:	Lee, Geum Bong, Kim, Ga Yeon, Jeong, In Hwa, Kim, Namhee, Kim, Jae Woo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Neurological Association 2021
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8053547/ https://www.ncbi.nlm.nih.gov/pubmed/33835760 http://dx.doi.org/10.3988/jcn.2021.17.2.333

Ejemplares similares

A Novel KCNA1 Variant Manifesting as Persistent Limb Myokymia Without Episodic Ataxia
por: Shin, In Ja, et al.
Publicado: (2022)

Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity
por: Paulhus, Kelsey, et al.
Publicado: (2020)

Cervical Dystonia with Cerebellar Ataxia in KCNA1 Mutation: A Phenotypic Expansion
por: Mahale, Rohan R., et al.
Publicado: (2022)

Asterixis
por: Agarwal, R, et al.
Publicado: (2016)

Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders
por: Yuan, Haiming, et al.
Publicado: (2020)

Severe asterixis due to hypermagnesemia in chronic renal failure: a case report
por: Morimatsu, Mitsunori, et al.
Publicado: (2021)

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia
por: Helbig, Katherine L., et al.
Publicado: (2016)

Asterixis as a Presentation of Cerebellar Ischemic Stroke
por: Siniscalchi, Antonio, et al.
Publicado: (2012)

Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature
por: Lauxmann, Stephan, et al.
Publicado: (2021)

Case report: A novel loss-of-function pathogenic variant in the KCNA1 cytoplasmic N-terminus causing carbamazepine-responsive type 1 episodic ataxia
por: Manville, Rían W., et al.
Publicado: (2022)

Vertical Saccadic Slowing in Episodic Ataxia Type 2
por: Kim, Seoyeon, et al.
Publicado: (2022)

Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel
por: Imbrici, Paola, et al.
Publicado: (2021)

Unilateral Asterixis in Arm and Leg Caused by Internal Capsula Stroke
por: Feil, Katharina, et al.
Publicado: (2018)

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene
por: D'Adamo, Maria C., et al.
Publicado: (2015)

Carbamazepine Induced Asterixis with Hyperammonemia: A Case Report with Review of Literature
por: Singh, Hemendra, et al.
Publicado: (2015)

Case report – Asterixis Post High Frequency Focused-Ultrasound Thalamotomy
por: Mears, Ashley, et al.
Publicado: (2022)

Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene
por: Jeong, Heejeong, et al.
Publicado: (2014)

A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations
por: Han, Ji Yeon, et al.
Publicado: (2020)

Genetic Variants Associated with Episodic Ataxia in Korea
por: Choi, Kwang-Dong, et al.
Publicado: (2017)

Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family
por: Kim, Jeong-Min, et al.
Publicado: (2006)

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia
por: Chen, Haijun, et al.
Publicado: (2006)

Sleep in Kcna2 knockout mice
por: Douglas, Christopher L, et al.
Publicado: (2007)

KCNA2-Related Epileptic Encephalopathy
por: Kearney, Jennifer A.
Publicado: (2015)

Spinocerebellar ataxia type 6 and episodic ataxia type 2 in a Korean family.
por: Koh, S. H., et al.
Publicado: (2001)

Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing
por: Ferrick-Kiddie, Elizabeth A., et al.
Publicado: (2017)

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

Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders
por: Kegele, Josua, et al.
Publicado: (2021)

KCNA1 gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine
por: Müller, Peter, et al.
Publicado: (2023)

Episodic Ataxias: Clinical and Genetic Features
por: Choi, Kwang-Dong, et al.
Publicado: (2016)

Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1
por: Tomlinson, Susan Elizabeth, et al.
Publicado: (2013)

Case report: Episodic ataxia without ataxia?
por: Gaudio, Andrea, et al.
Publicado: (2023)

A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine
por: Imbrici, Paola, et al.
Publicado: (2021)

Silencing of KCNA1 suppresses the cervical cancer development via mitochondria damage
por: Liu, Li, et al.
Publicado: (2019)

Caveolin-1 facilitated KCNA5 expression, promoting breast cancer viability
por: Qu, Chao, et al.
Publicado: (2018)

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
por: Verdura, Edgard, et al.
Publicado: (2020)

Selective expression of KCNA5 and KCNB1 genes in gastric and colorectal carcinoma
por: Farah, Azer, et al.
Publicado: (2020)

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
por: Syrbe, Steffen, et al.
Publicado: (2015)

Novel Mutations in BMPR2, ACVRL1 and KCNA5 Genes and Hemodynamic Parameters in Patients with Pulmonary Arterial Hypertension
por: Pousada, Guillermo, et al.
Publicado: (2014)

Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients
por: Ashton, Catherine, et al.
Publicado: (2023)

A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets
por: Jeong, In Hwa, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_la34abvhgbmp10poi69drk2q4b