Cargando…

Cervical Dystonia with Cerebellar Ataxia in KCNA1 Mutation: A Phenotypic Expansion

Detalles Bibliográficos
Autores principales:	Mahale, Rohan R., Jayanth, S. S, Dutta, Debayan, Manu, S. G, Padmanabha, Hansashree, Mailankody, Pooja
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2022
Materias:	Letters to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9764929/ https://www.ncbi.nlm.nih.gov/pubmed/36560997 http://dx.doi.org/10.4103/aian.aian_235_22

Ejemplares similares

Upbeat Nystagmus in Late Onset Cerebellar Ataxia: Think of Anti-Glutamate Decarboxylase 65 Antibody-Associated Cerebellar Ataxia
por: Mahale, Rohan R., et al.
Publicado: (2021)

Vascular Parkinsonism with Dystonia in Moyamoya Disease: An Expansion of Movement Disorder Phenomenology
por: Mahale, Rohan R., et al.
Publicado: (2022)

Childhood-Onset Generalized Dystonia Due to NDUFA9 Gene Mutation: An Expansion of Mutations Causing Leigh’s Syndrome
por: Singh, Raviprakash, et al.
Publicado: (2023)

Parkinsonism, Olivary Hypertrophy and Cerebellar Atrophy with TTC19 Gene Mutation
por: Mahale, Rohan R., et al.
Publicado: (2021)

A Rare Case of Ataxia-Telangiectasia-Like Disorder With MRE11 Mutation
por: Mahale, Rohan R, et al.
Publicado: (2020)

Kennedy's Disease: A Second Genetically Confirmed Report from India
por: Shah, Rutul, et al.
Publicado: (2021)

Hereditary Spastic Paraplegia due to LYST Gene Mutation: A Novel Causative Gene
por: Mahale, Rohan R., et al.
Publicado: (2023)

DYT30 due to VPS16 Mutation: An Etiology of Childhood-Onset Generalized Dystonia
por: Shashi, Sridhar, et al.
Publicado: (2023)

Spastic Paraplegia Type 8: A First Report from India
por: Mahale, Rohan, et al.
Publicado: (2023)

Postpartum Optic Neuropathy: Think of Myelin Oligodendrocyte Glycoprotein Immunoglobulin G-Associated Optic Neuritis - Report of Two Cases
por: Mahale, Rohan R., et al.
Publicado: (2021)

ADCY5-Related Dyskinesia: A Genetic Cause of Early-Onset Chorea-Report of Two Cases and a Novel Mutation
por: Padmanabha, Hansashree, et al.
Publicado: (2021)

Levodopa Non-Responsive Parkinsonism in Tuberculous Cerebral Arteritis: A Rare Occurrence
por: Mahale, Rohan, et al.
Publicado: (2022)

Autoimmune Antibodies Positivity in Probable Sporadic Creutzfeldt–Jakob Disease: A Mini-Review of Literature
por: Anudeep, Davuluri Durga Srinivas, et al.
Publicado: (2023)

Autosomal Dominant Cerebral Small Vessel Disease in HTRA1 Gene Mutation
por: Mahale, Rohan R., et al.
Publicado: (2021)

ANCA-associated Vasculitic Neuropathy Following Anti-SARS-CoV-2 Vaccination: An Epiphenomenon or Causal Association?
por: Jha, Shreyashi, et al.
Publicado: (2023)

Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association
por: Mahale, Rohan R., et al.
Publicado: (2021)

Pseudo-neonatal Adrenoleukodystrophy: A Rare Peroxisomal Disorder
por: Arora, Cheshta, et al.
Publicado: (2022)

Granulomatous Panuveitis in Multiple Sclerosis: A Rare Occurrence
por: Shah, Rutul, et al.
Publicado: (2022)

COASY Protein-Associated Neurodegeneration: Report from India
por: Mahale, Rohan R., et al.
Publicado: (2023)

Ataxia Telangiectasia Presenting as Cervical Dystonia
por: LNU, Priyal, et al.
Publicado: (2022)

CSF1R Related Leukoencephalopathy - Rare Childhood Presentation of An Autosomal Dominant Microgliopathy!
por: Sriram, Neeharika, et al.
Publicado: (2022)

Longitudinally Extensive Transverse Myelitis with Optic Neuritis Related to Profound Biotinidase Deficiency: NMOSD Mimic!
por: Ravikumar, Nagaraj Angadi, et al.
Publicado: (2023)

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

Hypergonadotrophic hypogonadism and cerebellar ataxia in an Indian adolescent: A rare report
por: Mahale, Rohan R., et al.
Publicado: (2015)

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

A Novel KCNA1 Mutation in an Episodic Ataxia Type 1 Patient with Asterixis and Falls
por: Lee, Geum Bong, et al.
Publicado: (2021)

Novel Mutation in CACNA1A Associated with Activity-Induced Dystonia, Cervical Dystonia, and Mild Ataxia
por: Stampfl, Benjamin, et al.
Publicado: (2021)

Electroencephalography as a Diagnostic Aid in a Girl with Neuroregression and Stereotypies
por: Dhar, Debjyoti, et al.
Publicado: (2020)

N-Methyl-D-Aspartate Encephalitis our Experience with Diagnostic Dilemmas, Clinical Features, and Outcome
por: Chandra, Sadanandavalli R., et al.
Publicado: (2018)

Abnormal cerebellar connectivity and plasticity in isolated cervical dystonia
por: Porcacchia, Paolo, et al.
Publicado: (2019)

Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia
por: Becker, Andrew E., et al.
Publicado: (2016)

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

Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia
por: Padmanabha, Hansashree, et al.
Publicado: (2021)

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders
por: Döring, Jan H., et al.
Publicado: (2021)

A Rare Phenotype of Inherited Cerebellar Ataxia
por: Raval, Darshankumar M, et al.
Publicado: (2022)

Spinocerebellar Ataxia Type 7 Sans Retinal Degeneration: A Phenotypic Variability
por: Mahale, Rohan R., et al.
Publicado: (2017)

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

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations
por: De Michele, Giovanna, et al.
Publicado: (2021)

Sensory Neuropathy in Spinocerebellar Ataxia Type 14: A Novel Phenotype
por: Nashi, Saraswati, et al.
Publicado: (2023)

Ataxia and focal dystonia in Kallmann syndrome
por: Hernando‐Quintana, Natalia, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_q5dtmij1dfq75hjrjsat7p2dvl