Cargando…

Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series

BACKGROUND: Epilepsy is the most common neurological disorder that causes spontaneous, unprovoked, and recurrent seizures. Epilepsy is clinically and genetically heterogeneous with various modes of inheritance. The complexity of epilepsy presents a challenge and identification of the causal genetic...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sahli, Maryem, Zrhidri, Abdelali, Elaloui, Siham Chafai, Smaili, Wiam, Lyahyai, Jaber, Oudghiri, Fatima Zohra, Sefiani, Abdelaziz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6706917/ https://www.ncbi.nlm.nih.gov/pubmed/31439038 http://dx.doi.org/10.1186/s13256-019-2203-8

Ejemplares similares

Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia
por: Doubaj, Yassamine, et al.
Publicado: (2021)

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report
por: Sahli, Maryem, et al.
Publicado: (2023)

Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis
por: Ouhenach, Mouna, et al.
Publicado: (2020)

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
por: Benbouchta, Yahya, et al.
Publicado: (2021)

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
por: Elalaoui, Siham Chafai, et al.
Publicado: (2021)

A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report
por: Doubaj, Yassamine, et al.
Publicado: (2017)

Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
por: Adadi, Najlae, et al.
Publicado: (2018)

Inherited dilated cardiomyopathy in a large Moroccan family caused by LMNA mutation
por: Adadi, Najlae, et al.
Publicado: (2018)

Moroccan consanguineous family with Becker myotonia and review
por: Ratbi, Ilham, et al.
Publicado: (2011)

Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature
por: El Kadiri, Youssef, et al.
Publicado: (2022)

Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report
por: Cherkaoui Jaouad, Imane, et al.
Publicado: (2015)

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
por: Lyahyai, Jaber, et al.
Publicado: (2018)

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
por: Lyahyai, Jaber, et al.
Publicado: (2018)

Mowat-Wilson syndrome in a Moroccan consanguineous family
por: Ratbi, Ilham, et al.
Publicado: (2007)

A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review
por: Elalaoui, Siham Chafai, et al.
Publicado: (2011)

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report
por: Cherkaoui Jaouad, Imane, et al.
Publicado: (2018)

Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report
por: El Kadiri, Youssef, et al.
Publicado: (2021)

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease
por: Zrhidri, Abdelali, et al.
Publicado: (2017)

Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report
por: Elalaoui, Siham Chafai, et al.
Publicado: (2021)

Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy
por: Hill, Sophie F., et al.
Publicado: (2023)

Spectrum of SCN8A-Related Epilepsy
por: Morgan, Lindsey A., et al.
Publicado: (2015)

Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population
por: Guaoua, Soukaina, et al.
Publicado: (2014)

A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report
por: Smaili, W., et al.
Publicado: (2017)

The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin
por: Ratbi, Ilham, et al.
Publicado: (2015)

Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome
por: Amllal, Nada, et al.
Publicado: (2024)

Effects of GRM4, SCN2A and SCN3B polymorphisms on antiepileptic drugs responsiveness and epilepsy susceptibility
por: AL-Eitan, Laith N., et al.
Publicado: (2019)

Insulin-like growth factor type 1 deficiency in a Moroccan patient with de novo inverted duplication 9p24p12 and developmental delay: a case report
por: Amasdl, Saadia, et al.
Publicado: (2016)

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

Modifier genes in SCN1A‐related epilepsy syndromes
por: de Lange, Iris M., et al.
Publicado: (2020)

Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy
por: Lu, Yuan, et al.
Publicado: (2020)

Investigation of bacterial diversity using 16S rRNA sequencing and prediction of its functionalities in Moroccan phosphate mine ecosystem
por: Azaroual, Salah Eddine, et al.
Publicado: (2022)

Epilepsy surgery in patient with monogenic epilepsy related to SCN8A mutation
por: Podkorytova, Irina, et al.
Publicado: (2022)

Data on mutations and Clinical features in SCN1A or SCN2A gene
por: Kong, Yanting, et al.
Publicado: (2018)

No association between SCN9A and monogenic human epilepsy disorders
por: Fasham, James, et al.
Publicado: (2020)

SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis
por: Zeng, Qi, et al.
Publicado: (2022)

SCN1A-Related Epilepsy: Novel Mutations and Rare Phenotypes
por: Ma, Rui, et al.
Publicado: (2022)

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report
por: Chafai-Elalaoui, Siham, et al.
Publicado: (2015)

Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy
por: Naseer, Muhammad Imran, et al.
Publicado: (2022)

Novel presentation of SCN5A nonsense mutation as SCN5A overlap syndrome
por: Ahn, Hyo-Jeong, et al.
Publicado: (2021)

Association Between SCN1A rs2298771, SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 Polymorphisms and Responsiveness to Antiepileptic Drugs: A Meta-Analysis
por: Li, Mengmeng, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_pj77dvgoqktjbua8ddfgosqo7k