| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Antonella Riva, Antonietta Coppola, Ganna Balagura, Marcello Scala, Michele Iacomino, Francesca Marchese, Elisabetta Amadori, Simona Lattanzi, Roberta Meo, Salvatore Striano, Vincenzo Salpietro, Federico Zara, Carlo Minetti, Pasquale Striano, Leonilda Bil. Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation. Epileptic disorders : international epilepsy journal with videotape. vol 23. issue 2. 2021-05-17. PMID:33851920. |
temporal-parietal-occipital epilepsy in gefs+ associated with scn1a mutation. |
2021-05-17 |
2023-08-13 |
human |
| Akiko Shibata, Mariko Kasai, Hiroshi Terashima, Ai Hoshino, Taku Miyagawa, Kenjiro Kikuchi, Atsushi Ishii, Hiroshi Matsumoto, Masaya Kubota, Shinichi Hirose, Akira Oka, Masashi Mizuguch. Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion. Journal of the neurological sciences. vol 414. 2021-05-10. PMID:32276107. |
scn1a and kcnq2 are causative genes of genetic epilepsy including dravet syndrome and ohtahara syndrome. |
2021-05-10 |
2023-08-13 |
Not clear |
| Ana Ricobaraza, Lucia Mora-Jimenez, Elena Puerta, Rocio Sanchez-Carpintero, Ana Mingorance, Julio Artieda, Maria Jesus Nicolas, Guillermo Besne, Maria Bunuales, Manuela Gonzalez-Aparicio, Noemi Sola-Sevilla, Miguel Valencia, Ruben Hernandez-Alcoceb. Author Correction: Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation. Scientific reports. vol 11. issue 1. 2021-04-16. PMID:33850219. |
author correction: epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent dravet syndrome scn1a missense mutation. |
2021-04-16 |
2023-08-13 |
mouse |
| Alex Jaimes, Rosa Guerrero-López, Beatriz González-Giráldez, Jose M Serratos. De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+). Epileptic disorders : international epilepsy journal with videotape. vol 22. issue 3. 2021-04-05. PMID:32540801. |
scn1a is one of the most relevant epilepsy genes. |
2021-04-05 |
2023-08-13 |
Not clear |
| Lucy Deng, Alan Ma, Nicholas Wood, Simone Ardern-Holme. Vaccination management in an asymptomatic child with a novel SCN1A variant and family history of status epilepticus following vaccination: A case report on a potential new direction in personalised medicine. Seizure. vol 78. 2021-02-26. PMID:32193085. |
scn1a variants cause a spectrum of epilepsy syndromes from dravet syndrome, a severe epileptic encephalopathy of early infancy to the milder disorder of genetic epilepsy with febrile seizures plus (gefs+). |
2021-02-26 |
2023-08-13 |
Not clear |
| Aikaterini Vezyroglou, Sophia Varadkar, Thomas Bast, Edouard Hirsch, Karl Strobl, A Simon Harvey, Ingrid E Scheffer, Sanjay M Sisodiya, J Helen Cros. Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery? Developmental medicine and child neurology. vol 62. issue 11. 2021-01-21. PMID:32538476. |
variants in the gene scn1a are a common genetic cause for a wide range of epilepsy phenotypes ranging from febrile seizures to dravet syndrome. |
2021-01-21 |
2023-08-13 |
Not clear |
| Aikaterini Vezyroglou, Sophia Varadkar, Thomas Bast, Edouard Hirsch, Karl Strobl, A Simon Harvey, Ingrid E Scheffer, Sanjay M Sisodiya, J Helen Cros. Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery? Developmental medicine and child neurology. vol 62. issue 11. 2021-01-21. PMID:32538476. |
we report eight patients (mean age 13y 11mo [sd 8y 1mo], range 3-26y; four females, four males) with scn1a variants, who underwent epilepsy surgery. |
2021-01-21 |
2023-08-13 |
Not clear |
| Aikaterini Vezyroglou, Sophia Varadkar, Thomas Bast, Edouard Hirsch, Karl Strobl, A Simon Harvey, Ingrid E Scheffer, Sanjay M Sisodiya, J Helen Cros. Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery? Developmental medicine and child neurology. vol 62. issue 11. 2021-01-21. PMID:32538476. |
we conclude that the value of epilepsy surgery in patients with an scn1a variant rests on two issues: understanding whether the variant is pathogenic and the patient's anatomo-electroclinical phenotype. |
2021-01-21 |
2023-08-13 |
Not clear |
| Aikaterini Vezyroglou, Sophia Varadkar, Thomas Bast, Edouard Hirsch, Karl Strobl, A Simon Harvey, Ingrid E Scheffer, Sanjay M Sisodiya, J Helen Cros. Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery? Developmental medicine and child neurology. vol 62. issue 11. 2021-01-21. PMID:32538476. |
what this paper adds: patients should not automatically be excluded from epilepsy surgery evaluation if they carry an scn1a variant. |
2021-01-21 |
2023-08-13 |
Not clear |
| Yunyao Xie, Nathan N Ng, Olga S Safrina, Carmen M Ramos, Kevin C Ess, Philip H Schwartz, Martin A Smith, Diane K O'Dow. Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation. Neurobiology of disease. vol 134. 2021-01-13. PMID:31786370. |
comparisons of dual isogenic human ipsc pairs identify functional alterations directly caused by an epilepsy associated scn1a mutation. |
2021-01-13 |
2023-08-13 |
human |
| James Fasham, Joseph S Leslie, Jamie W Harrison, James Deline, Katie B Williams, Ashley Kuhl, Jessica Scott Schwoerer, Harold E Cross, Andrew H Crosby, Emma L Bapl. No association between SCN9A and monogenic human epilepsy disorders. PLoS genetics. vol 16. issue 11. 2021-01-06. PMID:33216760. |
previously, scn9a gene variants, in particular a c.1921a>t p.(asn641tyr) substitution, have been identified as a likely autosomal dominant cause of febrile seizures/febrile seizures plus and other monogenic seizure phenotypes indistinguishable from those associated with scn1a, leading to inclusion of scn9a on epilepsy gene testing panels. |
2021-01-06 |
2023-08-13 |
human |
| Jindou Hao, Haiying Liu, Jiying Ma, Guosheng Liu, Guoqing Dong, Peihui Liu, Fei Xia. SCN1A IVS5N+5 G>A Polymorphism and Risk of Febrile Seizure and Epilepsy: A Systematic Review and Meta-Analysis. Frontiers in neurology. vol 11. 2021-01-05. PMID:33391151. |
scn1a ivs5n+5 g>a polymorphism and risk of febrile seizure and epilepsy: a systematic review and meta-analysis. |
2021-01-05 |
2023-08-13 |
Not clear |
| Yuan Lu, Quanping Su, Ming Li, Alimu Dayimu, Xiaoyu Dai, Zhiheng Wang, Fengyuan Che, Fuzhong Xu. Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy. BioMed research international. vol 2020. 2021-01-04. PMID:32185219. |
association of scn1a, scn2a, and ugt2b7 polymorphisms with responsiveness to valproic acid in the treatment of epilepsy. |
2021-01-04 |
2023-08-13 |
Not clear |
| Daniela Kluckova, Miriam Kolnikova, Lubica Lacinova, Bohumila Jurkovicova-Tarabova, Tomas Foltan, Viktor Demko, Ludevit Kadasi, Andrej Ficek, Andrea Soltysov. A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients. Scientific reports. vol 10. issue 1. 2020-12-21. PMID:32581296. |
a study among the genotype, functional alternations, and phenotype of 9 scn1a mutations in epilepsy patients. |
2020-12-21 |
2023-08-13 |
Not clear |
| Chung-Kin Chan, Joyce Siew-Yong Low, Kheng-Seang Lim, Siew-Kee Low, Chong-Tin Tan, Ching-Ching N. Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 41. issue 3. 2020-11-30. PMID:31720899. |
whole exome sequencing identifies a novel scn1a mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes. |
2020-11-30 |
2023-08-13 |
Not clear |
| Ágnes Till, Judith Zima, Anett Fekete, Judit Bene, Márta Czakó, András Szabó, Béla Melegh, Kinga Hadzsie. Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy. Seizure. vol 74. 2020-11-16. PMID:31765958. |
mutation spectrum of the scn1a gene in a hungarian population with epilepsy. |
2020-11-16 |
2023-08-13 |
Not clear |
| Ágnes Till, Judith Zima, Anett Fekete, Judit Bene, Márta Czakó, András Szabó, Béla Melegh, Kinga Hadzsie. Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy. Seizure. vol 74. 2020-11-16. PMID:31765958. |
the vast majority of mutations responsible for epilepsy syndromes such as genetic epilepsy with febrile seizures plus (gefs+) and dravet syndrome (ds) occur in the gene encoding the type 1 alpha subunit of neuronal voltage-gated sodium channel (scn1a). |
2020-11-16 |
2023-08-13 |
Not clear |
| Dilara Bahceci, Lyndsey Leigh Anderson, Cassandra Veronica Occelli Hanbury Brown, Cilla Zhou, Jonathon Carl Arnol. Adolescent behavioral abnormalities in a Scn1a Epilepsy & behavior : E&B. vol 103. issue Pt A. 2020-11-04. PMID:31870807. |
adolescent behavioral abnormalities in a scn1a dravet syndrome is an intractable pediatric epilepsy associated with scn1a mutations. |
2020-11-04 |
2023-08-13 |
mouse |
| Paul G Hatini, Kathryn G Common. Serotonin abnormalities in Dravet syndrome mice before and after the age of seizure onset. Brain research. vol 1724. 2020-10-29. PMID:31445030. |
dravet syndrome (ds) is a genetic form of severe epilepsy often associated with mutation of the scn1a gene encoding the voltage gated sodium channel nav1.1. |
2020-10-29 |
2023-08-13 |
mouse |
| Ana Ricobaraza, Lucia Mora-Jimenez, Elena Puerta, Rocio Sanchez-Carpintero, Ana Mingorance, Julio Artieda, Maria Jesus Nicolas, Guillermo Besne, Maria Bunuales, Manuela Gonzalez-Aparicio, Noemi Sola-Sevilla, Miguel Valencia, Ruben Hernandez-Alcoceb. Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation. Scientific reports. vol 9. issue 1. 2020-10-28. PMID:31578435. |
epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent dravet syndrome scn1a missense mutation. |
2020-10-28 |
2023-08-13 |
mouse |