Cargando…

Childhood-onset epileptic encephalopathy due to FGF12 exon 1–4 tandem duplication

Detalles Bibliográficos
Autores principales:	Verheyen, Sarah, Speicher, Michael R., Ramler, Barbara, Plecko, Barbara
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2020
Materias:	Clinical/Scientific Notes
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371371/ https://www.ncbi.nlm.nih.gov/pubmed/32802954 http://dx.doi.org/10.1212/NXG.0000000000000494

Ejemplares similares

Phenytoin-responsive epileptic encephalopathy with a tandem duplication involving FGF12
por: Shi, Rui-Ming, et al.
Publicado: (2017)

FHF1 (FGF12) epileptic encephalopathy
por: Al-Mehmadi, Sameer, et al.
Publicado: (2016)

Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant
por: Sugawara, Yuji, et al.
Publicado: (2020)

Epileptic Encephalopathies in Adults and Childhood
por: Kural, Zekiye, et al.
Publicado: (2012)

The clinical importance of tandem exon duplication-derived substitutions
por: Martinez Gomez, Laura, et al.
Publicado: (2021)

Tandem Exon Duplications Expanding the Alternative Splicing Repertoire
por: Ivanov, T. M., et al.
Publicado: (2022)

Neuromonitoring in Neonatal-Onset Epileptic Encephalopathies
por: Trollmann, Regina
Publicado: (2021)

Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset
por: Smogavec, Mateja, et al.
Publicado: (2017)

Origins and Evolution of Human Tandem Duplicated Exon Substitution Events
por: Martinez-Gomez, Laura, et al.
Publicado: (2022)

Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
por: Novis, Luiz Eduardo, et al.
Publicado: (2023)

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia
por: Masuho, Ikuo, et al.
Publicado: (2016)

Lorcaserin therapy for severe epilepsy of childhood onset: A case series
por: Tolete, Patricia, et al.
Publicado: (2018)

GRIN1 Mutations in Early-Onset Epileptic Encephalopathy
por: Chen, Wenjuan, et al.
Publicado: (2015)

The Role of Epilepsy Surgery in the Treatment of Childhood Epileptic Encephalopathy
por: Kayyali, Husam R., et al.
Publicado: (2013)

Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy
por: Efthymiou, Stephanie, et al.
Publicado: (2021)

Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants
por: Srivastava, Siddharth, et al.
Publicado: (2016)

Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients
por: Wang, Xu, et al.
Publicado: (2022)

Epileptic Encephalopathy
por: Specchio, Nicola, et al.
Publicado: (2012)

Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism
por: Spagnoli, Carlotta, et al.
Publicado: (2023)

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies
por: Joshi, Charuta, et al.
Publicado: (2016)

Early-onset epileptic encephalopathies and the diagnostic approach to underlying causes
por: Hwang, Su-Kyeong, et al.
Publicado: (2015)

Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy
por: Alsahli, Saud, et al.
Publicado: (2018)

Molecular Mechanism Involved in the Pathogenesis of Early-Onset Epileptic Encephalopathy
por: Vitaliti, Giovanna, et al.
Publicado: (2019)

Electroencephalogram of Age-Dependent Epileptic Encephalopathies in Infancy and Early Childhood
por: Wong-Kisiel, Lily C., et al.
Publicado: (2013)

Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation
por: Jaffer, Fatima, et al.
Publicado: (2017)

Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene
por: Sung, Angela R., et al.
Publicado: (2018)

De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy
Publicado: (2018)

Tandem duplications lead to novel expression patterns through exon shuffling in Drosophila yakuba
por: Rogers, Rebekah L., et al.
Publicado: (2017)

Exonic deletion of SLC9A9 in autism with epilepsy
por: Cardon, Meeta, et al.
Publicado: (2016)

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
por: Papuc, Sorina M., et al.
Publicado: (2018)

Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A
por: Lynch, David S., et al.
Publicado: (2016)

Epileptic Encephalopathies: An Overview
por: Khan, Sonia, et al.
Publicado: (2012)

Epileptic Encephalopathies in Children
por: Tabarki, Brahim, et al.
Publicado: (2013)

ScanITD: Detecting internal tandem duplication with robust variant allele frequency estimation
por: Wang, Ting-You, et al.
Publicado: (2020)

Role of rufinamide in the management of Lennox-Gastaut syndrome (childhood epileptic encephalopathy)
por: Kluger, Gerhard, et al.
Publicado: (2007)

“Epileptic Encephalopathy” of Infancy and Childhood: Electro-Clinical Pictures and Recent Understandings
por: Parisi, Pasquale, et al.
Publicado: (2010)

Genomic Investigation of Infantile and Childhood Epileptic Encephalopathies in Kazakhstan: An Urgent Priority
por: Jaxybayeva, Altynshash, et al.
Publicado: (2021)

Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant
por: Paucar, Martin, et al.
Publicado: (2021)

Posterior reversible encephalopathy syndrome is not associated with mutations in aquaporin-4
por: Matiello, Marcelo, et al.
Publicado: (2015)

Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)
por: Ng, Peng Soon, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_71kmd81ncn2mcbnnpvmbgbml9q