Results 31 to 40 of about 8,423 (186)

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

, 2016
BACKGROUND: Sanger 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).
Serratosa, J., Muhle, H., Myers, C., Muhle, H, Gormley, P., Caglayan, HS, McMahon, J., Weckhuysen, S., Helbig, I., Djémié, T, Leguern, E, Stephani, U., Hamalainen, E., von Spiczak, S, Weckhuysen, S, Myers, CT, Zara, F, Giraldez, B., Stephani, U, Serratosa, JM, Usluer, S, Anttonen, AK, Lehesjoki, AE, Hjalgrim, H., Carvill, G., Gaily, E, Gormley, P, Suls, A, Depienne, C, Lehesjoki, A., Lemke, JR, Anttonen, A., Guerrini, R, Suls, A., Leguern, E., Moller, R., Helbig, I, Usluer, S., Marini, C, EuroEPINOMICS‐RES Dravet working group, Hartmann, C, McMahon, JM, Mei, D., Caglayan, H., van Kempen, M., Guerrini, R., Brilstra, E, Depienne, C., Leu, C., Nava, C, Jaehn, J., Hernandez-Hernandez, L., Zara, F., Palotie, A, Lemke, J., Hämäläinen, E, Sisodiya, S., Møller, RS, Guerrero-Lopez, R., von Spiczak, S., Leu, C, Guerrero-López, R, López, RG, Koeleman, BPC, Carvill, GL, Sisodiya, SM, Koeleman, B., Gaily, E., Djemie, T., Lehesjoki, A-E, Palotie, A., Giraldez, BG, Scheffer, I., Gennaro, E., Striano, P., van Kempen, MJA, Hernandez, LH, Mei, D, De Kovel, C., Hernandez-Hernandez, L, Verbeek, N., Nava, C., Anttonen, A-K, de Kovel, CG, Mefford, HC, De Jonghe, P., Scheffer, IE, Marini, C., Brilstra, E., Mefford, H., Hjalgrim, H, Verbeek, NE, Hartmann, `., De Jonghe, P, Jaehn, J, Gennaro, E, Striano, P   +96 more
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ChrisCurrin/pv-scn1a: v1.0.0

, 2022
Final code for model as it appears in Keisuke Kaneko, Christopher B. Currin, Kevin M. Goff, Ala Somarowthu, Tim P. Vogels, Ethan M. Goldberg. Developmentally-regulated impairment of parvalbumin interneuron synaptic transmission in an experimental model ...
Christopher
core   +1 more source

De novo SCN1A géndeletio terápiarezisztens Dravet-szindrómában [PDF]

, 2015
Absztrakt A Dravet-szindróma vagy régebbi nevén súlyos csecsemőkori myoclonusos epilepszia igen ritka formája az epilepsziának.
Petra Mátyás, Judit Bene, Katalin Komlósi, Judit Bene, Bene, Judit, Kövesdi, Erzsébet, Komlósi, Katalin, Erzsébet Kövesdi, Kinga Hadzsiev, Béla Melegh, Hadzsiev, Kinga, Mátyás, Petra, Melegh, Béla   +12 more
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Genetic Testing Requires NGS and Sanger Methodologies

Pediatric Neurology Briefs, 2016
Investigators from the EuroEPINOMICS rare epilepsy syndromes Dravet working group performed whole-exome sequencing on 31 trios that had been reported negative for SCN1A mutations by Sanger sequencing.
Lawrence J. Jennings, Dawn Kirschmann
doaj   +1 more source

Biophysical characterization and modelling of SCN1A gain-of-function predicts interneuron hyperexcitability and a predisposition to network instability through homeostatic plasticity

Neurobiology of Disease, 2023
SCN1A gain-of-function variants are associated with early onset developmental and epileptic encephalopathies (DEEs) that possess distinct clinical features compared to Dravet syndrome caused by SCN1A loss-of-function.
Géza Berecki, Alexander Bryson, Tilman Polster, Steven Petrou   +3 more
doaj   +1 more source

SCN1A İlişkili İki Farkı Fenotip

, 2021
KS-05 Scn1A İlişkili İki Farkli FenotipDuygu Aykol Elitez1, Semra Hız Kurul1, Murat Derya Erçal21 Dokuz Eylül Üniversitesi Tıp Fakültesi, Çocuk Nöroloji Bilim Dalı1 Dokuz Eylül Üniversitesi Tıp Fakültesi Çocuk Genetik Bilim Dalı,izmirSCN1A, sodyum ...
Aykol, Duygu, Hız, Ayşe Semra, Erçal, Murat Derya   +2 more
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The Genetic Facets of Dravet Syndrome: Recent Insights [PDF]

Annals of Child Neurology
Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy, is a severe epileptic syndrome affecting children, with an incidence of 1/22,000 to 1/49,900 live births annually. Characterized by resistant and prolonged seizures, it often
Hinde El Mouhi, Meriame Abbassi, Meryem Jalte, Abdelhafid Natiq, Laila Bouguenouch, Sana Chaouki   +5 more
doaj   +1 more source

First report of SCN8A-related neurodevelopmental disorder and a case of SCN1A-related Dravet syndrome in Libya [PDF]

Exploration of Neuroscience
Neurogenetic disorders remain genetically uncharacterized in many populations, including Libya. We report three Libyan patients from two consanguineous families with pathogenic variants in sodium channel genes.
Anwaar M. Bennour, Ashraf M. Rajab, Heba A. El-Zawawi   +2 more
doaj   +1 more source

Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq. [PDF]

PLoS Genetics, 2016
A substantial number of mutations have been identified in voltage-gated sodium channel genes that result in various forms of human epilepsy. SCN1A mutations result in a spectrum of severity ranging from mild febrile seizures to Dravet syndrome, an infant-
Nicole A Hawkins, Nicole J Zachwieja, Alison R Miller, Lyndsey L Anderson, Jennifer A Kearney   +4 more
doaj   +1 more source

Modifier genes in SCN1A-related epilepsy syndromes [PDF]

, 2020
Background: SCN1A is one of the most important epilepsy-related genes, with pathogenic variants leading to a range of phenotypes with varying disease severity. Different modifying factors have been hypothesized to influence SCN1A-related phenotypes.
Isaac J. Nijman, van Kempen, Marjan J A, Koeleman, Bobby P. C., Robert F. Ernst, Nine V. A. M. Knoers, Koeleman, Bobby P C, van Kempen, Marjan J. A., Anja C. M. Sonsma, Flip Mulder, Ruben van 't Slot, Nijman, Isaac J., Marjan J. A. vanKempen, Marjan J. A. van Kempen, de Lange, Iris M., de Lange, Iris M, Knoers, Nine V A M, Ernst, Robert F, Eva H. Brilstra, Ernst, Robert F., Brilstra, Eva H, Sonsma, Anja C. M., Iris M. de Lange, Brilstra, Eva H., Mulder, Flip, Knoers, Nine V. A. M., Ruben van 'tSlot, Sonsma, Anja C M, Bobby P. C. Koeleman, van 't Slot, Ruben, Nijman, Isaac J   +29 more
core   +2 more sources