Results 171 to 180 of about 537,666 (200)

Focal Seizures in Patients With SCN1A Mutations

Journal of Child Neurology, 2016
The SCN1A gene has been implicated in the etiology of various forms of epilepsy. New research has linked this gene to specific types of epilepsy, all of which present in infancy or early childhood. This study examines the time course and pathology of pediatric patients who have a mutation in the SCN1A gene in order to open a discussion regarding the ...
Christopher L. McDonald, Russell P. Saneto, Lionel Carmant, Márcio A. Sotero de Menezes   +3 more
openaire   +1 more source

SCN1A point mutations on neuron connectivity

2009 IEEE 35th Annual Northeast Bioengineering Conference, 2009
Action potential generation and propagation is a critical parameter in the function of a neuronal network. The SCN1A voltage-gated sodium channel is an axonal protein crucial to action potential functionality. Here we have demonstrated the expression of a series of SCN1A genes in HEK 293 and primary neuronal cultures.
K. Krishnamurthy, A. Smith-Parker, S.D. Burton, H.C. Zeringue   +3 more
openaire   +1 more source

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

Neurology, 2002
Mutations in the neuronal voltage-gated sodium channel alpha-subunit type I gene (SCN1A) were found responsible for severe myoclonic epilepsy in infancy (SMEI). The authors describe novel mutations of SCN1A in Japanese patients with SMEI. They screened 12 unrelated patients and a pair of monozygotic twins and detected 10 mutations that lead to ...
T, Sugawara, E, Mazaki-Miyazaki, K, Fukushima, J, Shimomura, T, Fujiwara, S, Hamano, Y, Inoue, K, Yamakawa   +7 more
openaire   +2 more sources

Focal epilepsy due to de novo SCN1A mutation

Epileptic Disorders, 2021
AbstractObjective. Our aim was to identify patients with SCN1A‐related epilepsy with a phenotype of pure focal epilepsy.Methods. We conducted a retrospective study and a systematic review in Pubmed to identify patients with focal epilepsy associated with SCN1A pathogenic variants.Results.
Domitille, Laur, Blandine, Dozières-Puyravel, Adina, Iléa, Caroline, Nava, Catherine, Delanoë, Hala, Nasser, Eric, Le Guern, Stéphane, Auvin   +7 more
openaire   +2 more sources

Bromide in Patients with SCN1A-Mutations Manifesting as Dravet Syndrome

Neuropediatrics, 2012
We report a retrospective analysis of bromide therapy in 32 patients suffering from Dravet syndrome with SCN1A-mutations who received bromide. After 3 months of bromide treatment, 26 patients (81%) showed a relevant improvement with a reduction of seizure frequency by >50% (>75%) in 18 (12) patients (56 and 37%, respectively).
Jan, Lotte, Edda, Haberlandt, Bernd, Neubauer, Martin, Staudt, Gerhard Josef, Kluger   +4 more
openaire   +2 more sources

Spectrum ofSCN1Amutations in severe myoclonic epilepsy of infancy

Neurology, 2003
SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93 patients with SMEI and made genotype-phenotype correlation to clarify the role of this gene in the etiology of SMEI.All patients fulfilled the criteria for SMEI.
Nabbout R., Gennaro E., Dalla Bernardina B., Dulac O., Madia F., Bertini E., Capovilla G., Chiron C., Cristofori G., Elia M., Fontana E., Gaggero R., Granata T., Guerrini R., Loi M., La Selva L., Lispi M. L., Matricardi A., Romeo A., Tzolas V., Valseriati D., Veggiotti P., Vigevano F., Vallee L., Dagna Bricarelli F., Bianchi A., Zara F.   +26 more
openaire   +3 more sources

Two Novel Mutations in SCN1A Gene in Iranian Patients with Epilepsy

Archives of Medical Research, 2010
Epilepsy as a common chronic neurological disorder is characterized by recurrent unprovoked seizures. Febrile seizures are the most common type of epilepsy in infants and children. Our aim was the molecular analysis of SCN1A gene in affected Iranian patients with GEFS+ and Dravet syndrome diagnosed clinically to explain genotype-phenotype correlation ...
Ahmad, Ebrahimi, Massoud, Houshmand, Seyed Hassan, Tonekaboni, Mohammd Sadegh, Fallah Mahboob Passand, Sirous, Zainali, Mehdi, Moghadasi   +5 more
openaire   +2 more sources

Focal Seizures in Patients With SCN1A Mutations.

Journal of child neurology, 2018
The SCN1A gene has been implicated in the etiology of various forms of epilepsy. New research has linked this gene to specific types of epilepsy, all of which present in infancy or early childhood. This study examines the time course and pathology of pediatric patients who have a mutation in the SCN1A gene in order to open a discussion regarding the ...
Christopher L, McDonald, Russell P, Saneto, Lionel, Carmant, Márcio A, Sotero de Menezes   +3 more
openaire   +1 more source

ParentalSCN1Amutation mosaicism in familial Dravet syndrome

Clinical Genetics, 2009
DifferentSCN1Amutations are known to cause a variety of phenotypes, such as generalized epilepsy with febrile seizures plus (GEFS+), Dravet syndrome and familial hemiplegic migraine (FHM). In Dravet syndrome, most mutations arede novoand familial cases are rare. In this study, Dravet syndrome is observed in two maternal half sisters.
K K, Selmer, A-S, Eriksson, K, Brandal, T, Egeland, C, Tallaksen, D E, Undlien   +5 more
openaire   +2 more sources

Generalized Epilepsy With Febrile Seizures plus: Novel SCN1A Mutation

Pediatric Neurology, 2010
Genetic generalized epilepsy with febrile seizures plus (GEFS+) is an idiopathic generalized epileptic syndrome of heterogeneous phenotype. The cases described here are of two brothers, one with severe myoclonic epilepsy of infancy (Dravet syndrome) and the other myoclonic-astatic epilepsy. Their father experienced one simple febrile seizure in infancy
Petia S, Dimova, Iglika, Yordanova, Veneta, Bojinova, Albena, Jordanova, Ivo, Kremenski   +4 more
openaire   +2 more sources