Novel Mutation in the CACNA1B Gene Linked to Pediatric Focal Epilepsy

Novel Mutation in the CACNA1B Gene Linked to Pediatric Focal Epilepsy

Saved in:

Bibliographic Details
Main Authors:	Jin Hwan Lyu, Hui Jin Shin, Joon Soo Lee, Hoon-Chul Kang
Format:	Article
Language:	English
Published:	Korean Child Neurology Society 2025-01-01
Series:	Annals of Child Neurology
Online Access:	http://annchildneurol.org/upload/pdf/acn-2024-00696.pdf
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Temporal Lobe Surgery in Pediatric Patients: From Temporal Lobe Epilepsy to Temporal Plus Epilepsy
by: Jun Chul Byun, et al.
Published: (2024-10-01)

GATOR1 gene variants in focal epilepsy
by: Kovačević Maša, et al.
Published: (2024-01-01)

Decanoic acid-enriched ketogenic diet in refractory epilepsy
by: Hui Jin Shin, et al.
Published: (2025-01-01)

Comparison of Premature Ejaculation in Men with Focal Epilepsy and Generalized Tonic-Clonic Epilepsy
by: Amir Adibi, et al.
Published: (2024-12-01)

Effect of perampanel in reducing depression in patients with focal epilepsy
by: Min Ming, et al.
Published: (2025-06-01)

Optical coherence tomography angiography in patients with focal epilepsy
by: Flora Rider, et al.
Published: (2025-01-01)

Usefulness of perampanel as initial monotherapy in children with non-lesional focal epilepsy
by: Hideaki Kanemura, et al.
Published: (2025-03-01)

Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan
by: Aqsa Ashfaq, et al.
Published: (2022-01-01)

Principles of epilepsy management in Pediatrics
by: Caridad Hernández Gutiérrez, et al.
Published: (2007-10-01)

The combination of decitabine with multi-omics confirms the regulatory pattern of the correlation between DNA methylation of the CACNA1C gene and atrial fibrillation
by: Yuling Yang, et al.
Published: (2024-12-01)

Secondary bilateral synchronization of interictal EEG discharges in focal epilepsy: prevalence and associated factors
by: Polina Specktor, et al.
Published: (2025-02-01)

Impaired brain-heart axis in focal epilepsy: Alterations in information flow and implications for seizure dynamics
by: Lorenzo Frassineti, et al.
Published: (2024-06-01)

Critical biomarkers for responsive deep brain stimulation and responsive focal cortex stimulation in epilepsy field
by: Zhikai Yu, et al.
Published: (2025-01-01)

Prevalence of FLT3 gene mutation and its expression in Brazilian pediatric B-ALL patients: clinical implications
by: Estefânia Rodrigues Biojone, et al.
Published: (2024-12-01)

Pharmacological approaches in drug-resistant pediatric epilepsies caused by pathogenic variants in potassium channel genes
by: Ilaria Filareto, et al.
Published: (2025-01-01)

Medial pulvinar stimulation for focal drug-resistant epilepsy: interim 12-month results of the PULSE study
by: Francesca Pizzo, et al.
Published: (2024-12-01)

Efficacy and safety of everolimus for patients with focal cortical dysplasia type 2
by: Se Hee Kim, et al.
Published: (2025-02-01)

Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A
by: Shiroh Miura, et al.
Published: (2024-01-01)

The T‐Type Calcium Channel CACNA1H is Required for Smooth Muscle Cytoskeletal Organization During Tracheal Tubulogenesis
by: Ziying Liu, et al.
Published: (2024-11-01)

Systematic literature review of the humanistic and economic burden of focal epilepsy and primary generalized tonic–clonic seizures in adults
by: Simona Boccaletti, et al.
Published: (2024-12-01)

Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL)
by: Lei Kong, et al.
Published: (2018-01-01)

Risk factors for malignancy in pediatric subacute/chronic focal craniocervical lymphadenopathy
by: Yishai Haimi-Cohen, et al.
Published: (2025-01-01)

Unveiling Thrombocytopenia Trends In Pediatric Epilepsy: The Valproate Connection
by: Kiran Nayab, et al.
Published: (2025-01-01)

Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report
by: Sultan Makhmetov, et al.
Published: (2025-01-01)

Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy
by: Huafang Zou, et al.
Published: (2025-01-01)

Intracranial Disease-Region Composite-Interpretation Technology for Enhanced Source Localization in Pediatric Epilepsy Surgery
by: Jeongyoon Shin, et al.
Published: (2025-01-01)

The Effect of Gene Mutations on Disease Severity Scores in Pediatric Familial Mediterranean Fever Patients
by: Şükrü Arslan, et al.
Published: (2022-02-01)

21041. NUEVO FENOTIPO DE MIOPATÍA CONGÉNITA CON PARÁLISIS PERIÓDICA ASOCIADO A MUTACIONES EN EL GEN CACNA1S
by: M. Afkir Ortega, et al.
Published: (2024-11-01)

21204. SÍNDROME NEURO-OCULAR ASOCIADO A DAGLA COMO MIMIC DE ATAXIA EPISÓDICA TIPO 2 (CACNA1A)
by: R. Sainz Torres, et al.
Published: (2024-11-01)

m6A-modified circCacna1c regulates necroptosis and ischemic myocardial injury by inhibiting Hnrnpf entry into the nucleus
by: Yi Jia, et al.
Published: (2024-11-01)

Prosopagnosia in the context of right handedness, left hemisphere perinatal stroke, epileptogenic cyst, and focal epilepsy: A pre-surgical case report
by: Alanna Kessler-Jones, et al.
Published: (2024-01-01)

POST-FOCAL AND PRE-FOCAL TWO MIRROR SYSTEMS
by: N. K. Artiukhina, et al.
Published: (2008-10-01)

Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature
by: Bingzi Dong, et al.
Published: (2022-01-01)

A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2
by: Sean Lance, et al.
Published: (2018-01-01)

Homozygous KDRS mutation-linked erythrokeratodermia variabilis et progressiva in a pediatric patient with recurrent cytopenia and severe pancreatic insufficiency
by: Rachit Khandelwal, et al.
Published: (2024-01-01)

On Hyperbolic 3-Manifolds Obtained by Dehn Surgery on Links
by: Soo Hwan Kim, et al.
Published: (2010-01-01)

Cooccurrence of Darier’s Disease and Epilepsy: A Pediatric Case Report and Review of the Literature
by: Tamer Celik, et al.
Published: (2014-01-01)

Artificial Intelligence in Pediatric Epilepsy Detection: Balancing Effectiveness With Ethical Considerations for Welfare
by: Marina Ramzy Mourid, et al.
Published: (2025-01-01)

YTHDF1 gene inhibits epilepsy progression by epigenetic activation of PTEN gene
by: Mingxia Li, et al.
Published: (2024-10-01)

X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene
by: Ayse Oktem, et al.
Published: (2024-01-01)