Cargando…

Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations

Dravet syndrome, also known as severe myoclonic epilepsy in infancy, is a rare disease characterized by the appearance of different types of seizures in a healthy baby, triggered by various factors and stressful events. We report 8 Lebanese cases referred for molecular analysis of the SCN1A gene. Re...

Descripción completa

Detalles Bibliográficos
Autores principales:	Alame, Saada, El-Houwayek, Eliane, Nava, Caroline, Sabbagh, Sandra, Fawaz, Ali, Gillart, Anne-Celine, Hasbini, Dana, Depienne, Christel, Mégarbané, André
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360541/ https://www.ncbi.nlm.nih.gov/pubmed/30805006 http://dx.doi.org/10.1155/2019/5270503

Ejemplares similares

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases
por: Nair, Pratibha, et al.
Publicado: (2018)

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
por: Megarbane, Andre, et al.
Publicado: (2022)

Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
por: Cho, Min Jung, et al.
Publicado: (2018)

Dravet syndrome: a new causative SCN1A mutation?
por: Poryo, Martin, et al.
Publicado: (2017)

Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome
por: Kwong, Anna Ka-Yee, et al.
Publicado: (2012)

SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome
por: Do, Thi Thu Hang, et al.
Publicado: (2017)

SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis
por: Ding, Jiangwei, et al.
Publicado: (2021)

Drug repurposing for Dravet syndrome in scn1Lab (−/−) mutant zebrafish
por: Sourbron, Jo, et al.
Publicado: (2019)

Ictal vocalizations in the Scn1a (+/−) mouse model of Dravet syndrome
por: Anderson, Lyndsey L., et al.
Publicado: (2023)

Delayed maturation of GABAergic signaling in the Scn1a and Scn1b mouse models of Dravet Syndrome
por: Yuan, Yukun, et al.
Publicado: (2019)

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome
por: Lenk, Guy M., et al.
Publicado: (2020)

SCN1B and SCN2B gene variants analysis in dravet syndrome patients: Analysis of 22 cases
por: Gong, Jiao-E., et al.
Publicado: (2019)

Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome
por: Ritter-Makinson, Stefanie, et al.
Publicado: (2019)

Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome
por: Ritter-Makinson, Stefanie, et al.
Publicado: (2019)

TANGO With SCN1A: Can This Molecular Dance Defeat Dravet Syndrome?
por: Wagnon, Jacy L.
Publicado: (2020)

Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation
por: Ricobaraza, Ana, et al.
Publicado: (2019)

Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome
por: Lenge, Matteo, et al.
Publicado: (2023)

The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy
por: Ko, Young Jun, et al.
Publicado: (2021)

Behavioral Comorbidities and Drug Treatments in a Zebrafish scn1lab Model of Dravet Syndrome
por: Grone, Brian P., et al.
Publicado: (2017)

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novo” SCN1A Mutations in Children with Dravet Syndrome
por: Xu, Xiaojing, et al.
Publicado: (2015)

Author Correction: Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation
por: Ricobaraza, Ana, et al.
Publicado: (2021)

Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon
por: Jalkh, Nadine, et al.
Publicado: (2012)

SCN1A Genetic Test for Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy and its Clinical Subtypes) for use in the Diagnosis, Prognosis, Treatment and Management of Dravet Syndrome
por: Stenhouse, Susan A.R., et al.
Publicado: (2013)

Novel SCN1A and GABRA1 Gene Mutations With Diverse Phenotypic Features and the Question on the Existence of a Broader Spectrum of Dravet Syndrome
por: Gontika, Maria P., et al.
Publicado: (2017)

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes
por: Jaber, Dana, et al.
Publicado: (2021)

CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review
por: Sabbagh, Sandra, et al.
Publicado: (2020)

Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet Syndrome treatment
por: Baraban, Scott C., et al.
Publicado: (2013)

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
por: Sadleir, Lynette G., et al.
Publicado: (2017)

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome
por: Gonsales, Marina C., et al.
Publicado: (2019)

Beyond Dravet Syndrome: Characterization of a Novel, More Severe SCN1A-Linked Epileptic Encephalopathy
por: Beck, Veronica C., et al.
Publicado: (2019)

The dose makes the poison—Novel insights into Dravet syndrome and SCN1A regulation through nonproductive splicing
por: Helbig, Ingo, et al.
Publicado: (2021)

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
por: Depienne, Christel, et al.
Publicado: (2009)

Transfer of SCN1A to the brain of adolescent mouse model of Dravet syndrome improves epileptic, motor, and behavioral manifestations
por: Mora-Jimenez, Lucia, et al.
Publicado: (2021)

Dravet Variant SCN1A(A1783V) Impairs Interneuron Firing Predominantly by Altered Channel Activation
por: Layer, Nikolas, et al.
Publicado: (2021)

Heat-induced seizures, premature mortality, and hyperactivity in a novel Scn1a nonsense model for Dravet syndrome
por: Mavashov, Anat, et al.
Publicado: (2023)

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
por: Depienne, Christel, et al.
Publicado: (2009)

A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome
por: Singh, Nanda A., et al.
Publicado: (2009)

Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report
por: Sharkia, Rajech, et al.
Publicado: (2016)

Inhibitory synaptic transmission is impaired at higher extracellular Ca(2+) concentrations in Scn1a(+/−) mouse model of Dravet syndrome
por: Uchino, Kouya, et al.
Publicado: (2021)

Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndrome
por: Valassina, Nicholas, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_16rlfbjohsfm289pq344o3p3eh