Results 11 to 20 of about 537,666 (200)

Encephalopathy andSCN1Amutations

Epilepsia, 2011
SummaryWe describe three children with genetically different sodium channel alpha 1 subunit (SCN1A) mutation associated epilepsy who experienced a sudden and sustained neurologic regression following status epilepticus in two and acute sepsis in one.
Tang, Shan, Lin, Jean-Pierre, Hughes, Elaine, Siddiqui, Ata, Lim, Ming, Lascelles, Karine   +5 more
openaire   +4 more sources

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. [PDF]

PLoS ONE, 2012
BACKGROUND: Dravet syndrome is a severe form of epilepsy. Majority of patients have a mutation in SCN1A gene, which encodes a voltage-gated sodium channel. A recent study has demonstrated that 16% of SCN1A-negative patients have a mutation in PCDH19, the
Anna Ka-Yee Kwong, Cheuk-Wing Fung, Siu-Yuen Chan, Virginia Chun-Nei Wong   +3 more
doaj   +6 more sources

Interessanter Verlauf einer SCN1A-Mutation

Kinder- und Jugendmedizin, 2017
Zusammenfassung SCN1A-Mutationen zählen zu den häufigsten Ursachen für frühkindliche Epilepsien. Das klinische Spektrum ist breit und von hoher Variabilität innerhalb der einzelnen Krankheitsbilder. Häufig zeigt sich ein Beginn der Symptomatik mit fieberassoziierten Krampfanfällen im ersten Lebensjahr.
C. Wurst, U. Wurst
openaire   +2 more sources

Pitfalls in genetic testing: the story of missed SCN1A mutations [PDF]

Molecular Genetics & Genomic Medicine, 2016
AbstractBackgroundSanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next‐generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations.
Djémié, Tania, Weckhuysen, Sarah, von Spiczak, Sarah, Carvill, Gemma L, Jaehn, Johanna, Anttonen, Anna Kaisa, Brilstra, Eva, Caglayan, Hande S, de Kovel, Carolien G, Depienne, Christel, Gaily, Eija, Gennaro, Elena, Giraldez, Beatriz G, Gormley, Padhraig, Guerrero López, Rosa, GUERRINI, RENZO, Hämäläinen, Eija, Hartmann, Corinna, Hernandez Hernandez, Laura, Hjalgrim, Helle, Koeleman, Bobby P. C, Leguern, Eric, Lehesjoki, Anna Elina, Lemke, Johannes R, Leu, Costin, MARINI, CARLA, Mcmahon, Jacinta M, Mei, Davide, Møller, Rikke S, Muhle, Hiltrud, Myers, Candace T, Nava, Caroline, Serratosa, Jose M, Sisodiya, Sanjay M, Stephani, Ulrich, Striano, Pasquale, van Kempen, Marjan J. A, Verbeek, Nienke E, Usluer, Sunay, Zara, Federico, Palotie, Aarno, Mefford, Heather C, Scheffer, Ingrid E, De Jonghe, Peter, Helbig, Ingo, Suls, Arvid   +45 more
core   +14 more sources

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients

Human mutation, 2006
Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome is a rare epilepsy syndrome. In 30 to 70% of SMEI patients, truncating and missense mutations in the neuronal voltage-gated sodium-channel alpha-subunit gene (SCN1A) have been identified. The majority of patients have truncating mutations that are predicted to be loss-of-function alleles ...
Suls, Arvid, Claeys, Kristl G., Goossens, Dirk, Harding, Boris, van Luijk, Rob, Scheers, Stefaan, Deprez, Liesbet, Audenaert, Dominique, Van Dyck, Tine, Beeckmans, Sabine, Smouts, Iris, Ceulemans, Berten, Lagae, Lieven, Buyse, Gunnar, Barisic, Nina, Misson, Jean-Paul, Wauters, Jan, Del-Favero, Jurgen, De Jonghe, Peter, Claes, Lieve R.F.   +19 more
core   +6 more sources

A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies

Neurobiology of Disease, 2019
SCN1A (NaV1.1 sodium channel) mutations cause Dravet syndrome (DS) and GEFS+ (which is in general milder), and are risk factors in other epilepsies. Phenotypic variability limits precision medicine in epilepsy, and it is important to identify factors ...
Ana Rita Salgueiro-Pereira, Fabrice Duprat, Paula A. Pousinha, Alexandre Loucif, Vincent Douchamps, Cristina Regondi, Marion Ayrault, Martine Eugie, Marion I. Stunault, Andrew Escayg, Romain Goutagny, Vadym Gnatkovsky, Carolina Frassoni, Hélène Marie, Ingrid Bethus, Massimo Mantegazza   +15 more
doaj   +2 more sources

Pertussis Vaccination, Epilepsy and SCN1A Mutation

Pediatric Neurology Briefs, 2008
Literature regarding pertussis vaccination and risk of encephalopathy and/or epilepsy is reviewed by researchers from UCL Institute of Neurology, London, UK, and North Illinois University, DeKalb, IL, USA.
J Gordon Millichap
doaj   +4 more sources

Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine

Frontiers in Molecular Neuroscience, 2018
The SCN1A gene encodes for the voltage-dependent Nav1.1 Na+ channel, an isoform mainly expressed in GABAergic neurons that is the target of hundreds of epileptogenic mutations.
Sandra Dhifallah, Eric Lancaster, Shana Merrill, Nathalie Leroudier, Massimo Mantegazza, Sandrine Cestèle   +5 more
doaj   +2 more sources

Simple Febrile Seizures and Temporal Lobe Epilepsy Associated with SCN1A Mutation

Pediatric Neurology Briefs, 2007
The electroclinical features of a large Italian family with 13 living members having simple febrile seizures and SCN1A missense mutation (M145T), some complicated by temporal lobe epilepsy, are reported from University Magna Graecia, Catanzaro, and other
J Gordon Millichap
doaj   +2 more sources

A Novel SCN1A Mutation Associated With Reflex Seizures Induced by Movements. [PDF]

Cureus, 2023
A 14-year-old male patient was admitted to the hospital due to epileptic seizures, which occurred at the beginning of running exercise after being stopped and fast walking. Seizures were consistently characterized by a dystonic posture of the distal portion of the left arm-flexed and adducted by the chest without loss of consciousness.
Gong C, Li Q, Li X, Yu X, Li D.
europepmc   +3 more sources