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Brain: a journal of neurology, ISSN 0006-8950, 05/2017, Volume 140, Issue 5, pp. 1316 - 1336
Journal Article
Neurology, ISSN 0028-3878, 2015, Volume 84, Issue 5, pp. 480 - 489
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2016, Volume 7, Issue 4, pp. 189 - 196
Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2... 
Original Article | KCNQ3 | Familial neonatal convulsions | Neonatal seizures | Potassium channels | KCNQ2 | Levetiracetam | Original
Journal Article
by Wolff, Markus and Johannesen, Katrine M and Heich, Ulrike B S and Masnada, Silvia and Rubboli, Guido and Gardella, Elena and Lesca, Gaetan and Ville, Dorothée and Milh, Mathieu and Villard, Laurent and Afenjar, Alexana and Chantot-Bastaraud, Sana and Mignot, Cyril and Lardennois, Caroline and Nava, Caroline and Schwarz, Niklas and Gérard, Marion and Perrin, Laurence and Doummar, Diane and Auvin, Stéphane and Miranda, Maria J and Hempel, Maja and Brilstra, Eva and Knoers, Nine and Verbeek, Nienke and van Kempen, Marjan and Braun, Kees P and Mancini, Grazia and Biskup, Saskia and Hörtnagel, Konstanze and Döcker, Miriam and Bast, Thomas and Loddenkemper, Tobias and Wong-Kisiel, Lily and Baumeister, Frieich M and Fazeli, Walid and Striano, Pasquale and Dilena, Robertino and Fontana, Elena and Zara, Federico and Kurlemann, Gerhard and Klepper, Joerg and Thoene, Jess G and Arndt, Daniel H and Deconinck, Nicolas and Schmitt-Mechelke, Thomas and Maier, Oliver and Muhle, Hiltrud and Wical, Beverly and Finetti, Claudio and Brückner, Reinhard and Pietz, Joachim and Golla, Günther and Jillella, Dinesh and Linnet, Karen M and Charles, Perrine and Moog, Ute and Õiglane-Shlik, Eve and Mantovani, John F and Park, Kristen and Deprez, Marie and Lederer, Damien and Mary, Sanine and Scalais, Emmanuel and Selim, Laila and Van Coster, Rudy and Lagae, Lieven and Nikanorova, Marina and Hjalgrim, Helle and Korenke, G Christoph and Trivisano, Marina and Specchio, Nicola and Ceulemans, Berten and Dorn, Thomas and Helbig, Katherine L and Hardies, Katia and Stamberger, Hannah and de Jonghe, Peter and Weckhuysen, Sarah and Lemke, Johannes R and Krägeloh-Mann, Ingeborg and Helbig, Ingo and Kluger, Gerhard and Lerche, Holger and Møller, Rikke S
Brain, ISSN 0006-8950, 2017, Volume 140, Issue 5, pp. 1316 - 1336
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental... 
Humans | Child, Preschool | Infant | Male | NAV1.2 Voltage-Gated Sodium Channel/genetics | Sodium Channel Blockers/therapeutic use | Young Adult | Epilepsy/drug therapy | Denmark/epidemiology | Phenotype | Adolescent | Age of Onset | Adult | Female | Mutation | Child | Neurodevelopmental Disorders/genetics
Journal Article
by Wolff, Markus and Johannesen, Katrine M and Heich, Ulrike B S and Masnada, Silvia and Rubboli, Guido and Gardella, Elena and Lesca, Gaetan and Ville, Dorothée and Milh, Mathieu and Villard, Laurent and Afenjar, Alexana and Chantot-Bastaraud, Sana and Mignot, Cyril and Lardennois, Caroline and Nava, Caroline and Schwarz, Niklas and Gérard, Marion and Perrin, Laurence and Doummar, Diane and Auvin, Stéphane and Miranda, Maria J and Hempel, Maja and Brilstra, Eva and Knoers, Nine and Verbeek, Nienke and van Kempen, Marjan and Braun, Kees P and Mancini, Grazia and Biskup, Saskia and Hörtnagel, Konstanze and Döcker, Miriam and Bast, Thomas and Loddenkemper, Tobias and Wong-Kisiel, Lily and Baumeister, Frieich M and Fazeli, Walid and Striano, Pasquale and Dilena, Robertino and Fontana, Elena and Zara, Federico and Kurlemann, Gerhard and Klepper, Joerg and Thoene, Jess G and Arndt, Daniel H and Deconinck, Nicolas and Schmitt-Mechelke, Thomas and Maier, Oliver and Muhle, Hiltrud and Wical, Beverly and Finetti, Claudio and Brückner, Reinhard and Pietz, Joachim and Golla, Günther and Jillella, Dinesh and Linnet, Karen M and Charles, Perrine and Moog, Ute and Õiglane-Shlik, Eve and Mantovani, John F and Park, Kristen and Deprez, Marie and Lederer, Damien and Mary, Sanine and Scalais, Emmanuel and Selim, Laila and Van Coster, Rudy and Lagae, Lieven and Nikanorova, Marina and Hjalgrim, Helle and Korenke, G Christoph and Trivisano, Marina and Specchio, Nicola and Ceulemans, Berten and Dorn, Thomas and Helbig, Katherine L and Hardies, Katia and Stamberger, Hannah and de Jonghe, Peter and Weckhuysen, Sarah and Lemke, Johannes R and Krägeloh-Mann, Ingeborg and Helbig, Ingo and Kluger, Gerhard and Lerche, Holger and Møller, Rikke S
Brain, ISSN 0006-8950, 2017, Volume 140, Issue 5, p. 1316
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental... 
Epilepsy | Humans | Child, Preschool | Infant | Male | Young Adult | Phenotype | Adolescent | Age of Onset | Denmark | Adult | Female | Neurodevelopmental Disorders | Mutation | Sodium Channel Blockers | Child | NAV1.2 Voltage-Gated Sodium Channel
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2016, Volume 7, Issue 4, pp. 248 - 248
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2016, Volume 7, Issue 4, pp. 247 - 247
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 8, pp. 1034 - 1039
Journal Article
2001, Literature, culture, and identity, ISBN 0826451322, xv, 279
Book
BMC EVOLUTIONARY BIOLOGY, ISSN 1471-2148, 02/2016, Volume 16, Issue 28, p. 30
Journal Article
Copeia, ISSN 0045-8511, 2000, Volume 2000, Issue 4, pp. 1019 - 1028
Abstract Lampetra minima, believed eradicated in 1958 and extinct, survives in upper tributaries of the historical Williamson drainage in Klamath and Lake... 
Haplotypes | Colors | Trout | Lakes | Cytochromes | Fish | Evolution | Parasitism | Adults | Mathematical minima | ZOOLOGY
Journal Article
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 1991, Volume 165, Issue 6, pp. 2027 - 2031
In this study, ultrasonography was used to detect follicular activity in lactating women, and these findings were related to the underlying hormonal profiles... 
Lactating women | Natural family planning | Cervical mucus | Follicular growth | Ultrasonography | Family Planning Services | Humans | Breast Feeding | Ovarian Follicle - physiology | Ovary - diagnostic imaging | Female | Lactation - physiology | Follicular Phase - physiology | Ovulation - physiology | Cervix Mucus - physiology
Journal Article
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