Cargando…

Case Report: Distinctive EEG Patterns in SCARB-2 Related Progressive Myoclonus Epilepsy

Action myoclonus-renal failure syndrome (AMRF) is a rare, recessively inherited form of progressive myoclonus epilepsy (PME) caused by mutations in the SCARB2 gene and associated with end-stage renal failure. In addition to severe progressive myoclonus, the neurological manifestations of this syndro...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hotait, Mostafa, Dirani, Maya, El Halabi, Tarek, Beydoun, Ahmad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744754/ https://www.ncbi.nlm.nih.gov/pubmed/33343627 http://dx.doi.org/10.3389/fgene.2020.581253

Ejemplares similares

A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant
por: El Halabi, Tarek, et al.
Publicado: (2021)

FARS2 Mutations: More Than Two Phenotypes? A Case Report
por: Hotait, Mostafa, et al.
Publicado: (2020)

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure
por: He, Jin, et al.
Publicado: (2018)

A Novel Mutation in KCDT7 Gene in an Indian Girl With Progressive Myoclonus Epilepsy
por: Dudipala, Sai Chandar, et al.
Publicado: (2021)

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features
por: Hopfner, Franziska, et al.
Publicado: (2011)

Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome
por: Quraishi, Imran H., et al.
Publicado: (2021)

Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus
por: Dong, Yi, et al.
Publicado: (2023)

The importance of acknowledging diagnostic uncertainty in patients with new‐onset paroxysmal spells
por: El Halabi, Tarek, et al.
Publicado: (2021)

Coma With Absent Brainstem Reflexes and a Burst Suppression on EEG Secondary to Baclofen Toxicity
por: Farhat, Sahar, et al.
Publicado: (2020)

Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy
por: Martin, Sarah, et al.
Publicado: (2019)

Progressive myoclonus epilepsy associated with SACS gene mutations
por: Nascimento, Fábio A., et al.
Publicado: (2016)

Juvenile Huntington’s disease masquerading as progressive myoclonus epilepsy
por: Thakor, Bina, et al.
Publicado: (2021)

Perampanel improved intractable myoclonus in two patients with myoclonus epilepsy
por: Iijima, Mutsumi, et al.
Publicado: (2019)

Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy
por: Mitra, Sharmistha, et al.
Publicado: (2023)

Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy
por: Hentrich, Lea, et al.
Publicado: (2023)

Panayiotopoulos syndrome presenting with respiratory arrest: A case report and literature review
por: Dirani, Maya, et al.
Publicado: (2015)

Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities
por: Sanz, Pascual, et al.
Publicado: (2020)

Unmasking of myoclonus by lacosamide in generalized epilepsy
por: Birnbaum, Daniel, et al.
Publicado: (2016)

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
por: Couarch, Philippe, et al.
Publicado: (2011)

Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy
por: Carpenter, Jenna C., et al.
Publicado: (2021)

Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy
por: Herzog, Rebecca, et al.
Publicado: (2021)

NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement
por: Balicza, Péter, et al.
Publicado: (2018)

Action Myoclonus-Renal Failure Syndrome: A Case Report with Bioinformatic Annotations
por: Ekmekci, Hakan, et al.
Publicado: (2023)

Seizure control and improvement of neurological dysfunction in Lafora disease with perampanel
por: Dirani, Maya, et al.
Publicado: (2014)

Late-onset Juvenile Myoclonic Epilepsy or Frontal Lobe Epilepsy with Myoclonus
por: Zhang, Xin-Yue, et al.
Publicado: (2016)

Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy
por: Manninen, Otto, et al.
Publicado: (2015)

Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases
por: Canafoglia, Laura, et al.
Publicado: (2021)

Brain inflammation is accompanied by peripheral inflammation in Cstb(−/−) mice, a model for progressive myoclonus epilepsy
por: Okuneva, Olesya, et al.
Publicado: (2016)

Altered Expression of Peroxiredoxins in Mouse Model of Progressive Myoclonus Epilepsy upon LPS-Induced Neuroinflammation
por: Trstenjak Prebanda, Mojca, et al.
Publicado: (2021)

A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology
por: Zhang, Jin, et al.
Publicado: (2021)

Role of genetic modifiers in Lafora progressive myoclonus epilepsy-a neurodegenerative disorder with defects in carbohydrate metabolism
por: Singh, Shweta, et al.
Publicado: (2012)

Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes
por: Castellotti, Barbara, et al.
Publicado: (2023)

SCARB2 variants and glucocerebrosidase activity in Parkinson’s disease
por: Alcalay, Roy N, et al.
Publicado: (2016)

SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome
por: Bitetto, Giacomo, et al.
Publicado: (2023)

NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?
por: Riboldi, Giulietta M., et al.
Publicado: (2022)

Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies
por: Völker, Jörn M., et al.
Publicado: (2017)

The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study
por: van Egmond, Martje E., et al.
Publicado: (2017)

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
por: Bott, Laura C, et al.
Publicado: (2021)

Distinctive gene expression patterns in pregnancy-associated breast cancer
por: Wang, Dan, et al.
Publicado: (2022)

Human SCARB2-Mediated Entry and Endocytosis of EV71
por: Lin, Yi-Wen, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_1qbjc2cinrbrqk349jeel55e4s