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De novo mutations in HCN1 cause early infantile epileptic encephalopathy
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Nava, Caroline ; Dalle, Carine ; Rastetter, Agnès ; Striano, Pasquale ; de Kovel, Carolien G F ; Nabbout, Rima ; Cancès, Claude ; Ville, Dorothée ; Brilstra, Eva H ; Gobbi, Giuseppe ; Raffo, Emmanuel ; Bouteiller, Delphine ; Marie, Yannick ; Trouillard, Oriane ; Robbiano, Angela ; Keren, Boris ; Agher, Dahbia ; Roze, Emmanuel ; Lesage, Suzanne ; Nicolas, Aude ; Brice, Alexis ; Baulac, Michel ; Vogt, Cornelia ; El Hajj, Nady ; Schneider, Eberhard ; Suls, Arvid ; Weckhuysen, Sarah ; Gormley, Padhraig ; Lehesjoki, Anna-Elina ; De Jonghe, Peter ; Helbig, Ingo ; Baulac, Stéphanie ; Zara, Federico ; Koeleman, Bobby P C ; Haaf, Thomas ; LeGuern, Eric ; Depienne, Christel

Nature genetics, 2014-06, Vol.46 (6), p.640-645 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations
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Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

Marzin, Pauline ; Mignot, Cyril ; Dorison, Nathalie ; Dufour, Louis ; Ville, Dorothée ; Kaminska, Anna ; Panagiotakaki, Eleni ; Dienpendaele, Anne-Sophie ; Penniello, Marie-José ; Nougues, Marie-Christine ; Keren, Boris ; Depienne, Christel ; Nava, Caroline ; Milh, Mathieu ; Villard, Laurent ; Richelme, Christian ; Rivier, Clotilde ; Whalen, Sandra ; Heron, Delphine ; Lesca, Gaëtan ; Doummar, Diane

Brain & development (Tokyo. 1979), 2018-10, Vol.40 (9), p.768-774 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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3
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Wolff, Markus ; Johannesen, Katrine M ; Hedrich, Ulrike B S ; Masnada, Silvia ; Rubboli, Guido ; Gardella, Elena ; Lesca, Gaetan ; Ville, Dorothée ; Milh, Mathieu ; Villard, Laurent ; Afenjar, Alexandra ; Chantot-Bastaraud, Sandra ; Mignot, Cyril ; Lardennois, Caroline ; Nava, Caroline ; Schwarz, Niklas ; Gérard, Marion ; Perrin, Laurence ; Doummar, Diane ; Auvin, Stéphane ; Miranda, Maria J ; Hempel, Maja ; Brilstra, Eva ; Knoers, Nine ; Verbeek, Nienke ; van Kempen, Marjan ; Braun, Kees P ; Mancini, Grazia ; Biskup, Saskia ; Hörtnagel, Konstanze ; Döcker, Miriam ; Bast, Thomas ; Loddenkemper, Tobias ; Wong-Kisiel, Lily ; Baumeister, Friedrich M ; Fazeli, Walid ; Striano, Pasquale ; Dilena, Robertino ; Fontana, Elena ; Zara, Federico ; Kurlemann, Gerhard ; Klepper, Joerg ; Thoene, Jess G ; Arndt, Daniel H ; Deconinck, Nicolas ; Schmitt-Mechelke, Thomas ; Maier, Oliver ; Muhle, Hiltrud ; Wical, Beverly ; Finetti, Claudio ; Brückner, Reinhard ; Pietz, Joachim ; Golla, Günther ; Jillella, Dinesh ; Linnet, Karen M ; Charles, Perrine ; Moog, Ute ; Õiglane-Shlik, Eve ; Mantovani, John F ; Park, Kristen ; Deprez, Marie ; Lederer, Damien ; Mary, Sandrine ; Scalais, Emmanuel ; Selim, Laila ; Van Coster, Rudy ; Lagae, Lieven ; Nikanorova, Marina ; Hjalgrim, Helle ; Korenke, G Christoph ; Trivisano, Marina ; Specchio, Nicola ; Ceulemans, Berten ; Dorn, Thomas ; Helbig, Katherine L ; Hardies, Katia ; Stamberger, Hannah ; de Jonghe, Peter ; Weckhuysen, Sarah ; Lemke, Johannes R ; Krägeloh-Mann, Ingeborg ; Helbig, Ingo ; Kluger, Gerhard ; Lerche, Holger ; Møller, Rikke S

Brain (London, England : 1878), 2017-05, Vol.140 (5), p.1316-1336 [Periódico revisado por pares]

England: Oxford University Press

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4
The landscape of epilepsy-related GATOR1 variants
The landscape of epilepsy-related GATOR1 variants
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The landscape of epilepsy-related GATOR1 variants

Baldassari, Sara ; Picard, Fabienne ; Verbeek, Nienke E ; van Kempen, Marjan ; Brilstra, Eva H ; Lesca, Gaetan ; Conti, Valerio ; Guerrini, Renzo ; Bisulli, Francesca ; Licchetta, Laura ; Pippucci, Tommaso ; Tinuper, Paolo ; Hirsch, Edouard ; de Saint Martin, Anne ; Chelly, Jamel ; Rudolf, Gabrielle ; Chipaux, Mathilde ; Ferrand-Sorbets, Sarah ; Dorfmüller, Georg ; Sisodiya, Sanjay ; Balestrini, Simona ; Schoeler, Natasha ; Hernandez-Hernandez, Laura ; Krithika, S ; Oegema, Renske ; Hagebeuk, Eveline ; Gunning, Boudewijn ; Deckers, Charles ; Berghuis, Bianca ; Wegner, Ilse ; Niks, Erik ; Jansen, Floor E ; Braun, Kees ; de Jong, Daniëlle ; Rubboli, Guido ; Talvik, Inga ; Sander, Valentin ; Uldall, Peter ; Jacquemont, Marie-Line ; Nava, Caroline ; Leguern, Eric ; Julia, Sophie ; Gambardella, Antonio ; d'Orsi, Giuseppe ; Crichiutti, Giovanni ; Faivre, Laurence ; Darmency, Veronique ; Benova, Barbora ; Krsek, Pavel ; Biraben, Arnaud ; Lebre, Anne-Sophie ; Jennesson, Mélanie ; Sattar, Shifteh ; Marchal, Cécile ; Nordli, Jr, Douglas R ; Lindstrom, Kristin ; Striano, Pasquale ; Lomax, Lysa Boissé ; Kiss, Courtney ; Bartolomei, Fabrice ; Lepine, Anne Fabienne ; Schoonjans, An-Sofie ; Stouffs, Katrien ; Jansen, Anna ; Panagiotakaki, Eleni ; Ricard-Mousnier, Brigitte ; Thevenon, Julien ; de Bellescize, Julitta ; Catenoix, Hélène ; Dorn, Thomas ; Zenker, Martin ; Müller-Schlüter, Karen ; Brandt, Christian ; Krey, Ilona ; Polster, Tilman ; Wolff, Markus ; Balci, Meral ; Rostasy, Kevin ; Achaz, Guillaume ; Zacher, Pia ; Becher, Thomas ; Cloppenborg, Thomas ; Yuskaitis, Christopher J ; Weckhuysen, Sarah ; Poduri, Annapurna ; Lemke, Johannes R ; Møller, Rikke S ; Baulac, Stéphanie

Genetics in medicine, 2019-02, Vol.21 (2), p.398-408 [Periódico revisado por pares]

United States: Elsevier Limited

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5
Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia
Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia
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Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia

Koy, Anne ; Cirak, Sebahattin ; Gonzalez, Victoria ; Becker, Kerstin ; Roujeau, Thomas ; Milesi, Christophe ; Baleine, Julien ; Cambonie, Gilles ; Boularan, Alain ; Greco, Frederic ; Perrigault, Pierre-Francois ; Cances, Claude ; Dorison, Nathalie ; Doummar, Diane ; Roubertie, Agathe ; Beroud, Christophe ; Körber, Friederike ; Stüve, Burkhard ; Waltz, Stephan ; Mignot, Cyril ; Nava, Caroline ; Maarouf, Mohammad ; Coubes, Philippe ; Cif, Laura

Journal of the neurological sciences, 2018-08, Vol.391, p.31-39 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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6
Defining the phenotypic spectrum of SLC6A1 mutations
Defining the phenotypic spectrum of SLC6A1 mutations
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Defining the phenotypic spectrum of SLC6A1 mutations

Johannesen, Katrine M. ; Gardella, Elena ; Linnankivi, Tarja ; Courage, Carolina ; Saint Martin, Anne ; Lehesjoki, Anna‐Elina ; Mignot, Cyril ; Afenjar, Alexandra ; Lesca, Gaetan ; Abi‐Warde, Marie‐Thérèse ; Chelly, Jamel ; Piton, Amélie ; Merritt, J. Lawrence ; Rodan, Lance H. ; Tan, Wen‐Hann ; Bird, Lynne M. ; Nespeca, Mark ; Gleeson, Joseph G. ; Yoo, Yongjin ; Choi, Murim ; Chae, Jong‐Hee ; Czapansky‐Beilman, Desiree ; Reichert, Sara Chadwick ; Pendziwiat, Manuela ; Verhoeven, Judith S. ; Schelhaas, Helenius J. ; Devinsky, Orrin ; Christensen, Jakob ; Specchio, Nicola ; Trivisano, Marina ; Weber, Yvonne G. ; Nava, Caroline ; Keren, Boris ; Doummar, Diane ; Schaefer, Elise ; Hopkins, Sarah ; Dubbs, Holly ; Shaw, Jessica E. ; Pisani, Laura ; Myers, Candace T. ; Tang, Sha ; Tang, Shan ; Pal, Deb K. ; Millichap, John J. ; Carvill, Gemma L. ; Helbig, Kathrine L. ; Mecarelli, Oriano ; Striano, Pasquale ; Helbig, Ingo ; Rubboli, Guido ; Mefford, Heather C. ; Møller, Rikke S.

Epilepsia (Copenhagen), 2018-02, Vol.59 (2), p.389-402 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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7
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Piard, Juliette ; Hawkes, Lara ; Milh, Mathieu ; Villard, Laurent ; Borgatti, Renato ; Romaniello, Romina ; Fradin, Melanie ; Capri, Yline ; Héron, Delphine ; Nougues, Marie-Christine ; Nava, Caroline ; Arsene, Oana Tarta ; Shears, Debbie ; Taylor, John ; Pagnamenta, Alistair ; Taylor, Jenny C ; Sogawa, Yoshimi ; Johnson, Diana ; Firth, Helen ; Vasudevan, Pradeep ; Jones, Gabriela ; Nguyen-Morel, Marie-Ange ; Busa, Tiffany ; Roubertie, Agathe ; van den Born, Myrthe ; Brischoux-Boucher, Elise ; Koenig, Michel ; Mignot, Cyril ; Kini, Usha ; Philippe, Christophe

Genetics in medicine, 2019-06, Vol.21 (6), p.1308-1318 [Periódico revisado por pares]

United States: Elsevier Limited

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8
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Balasubramanian, Meena ; Dingemans, Alexander J M ; Albaba, Shadi ; Richardson, Ruth ; Yates, Thabo M ; Cox, Helen ; Douzgou, Sofia ; Armstrong, Ruth ; Sansbury, Francis H ; Burke, Katherine B ; Fry, Andrew E ; Ragge, Nicola ; Sharif, Saba ; Foster, Alison ; De Sandre-Giovannoli, Annachiara ; Elouej, Sahar ; Vasudevan, Pradeep ; Mansour, Sahar ; Wilson, Kate ; Stewart, Helen ; Heide, Solveig ; Nava, Caroline ; Keren, Boris ; Demirdas, Serwet ; Brooks, Alice S ; Vincent, Marie ; Isidor, Bertrand ; Küry, Sebastien ; Schouten, Meyke ; Leenders, Erika ; Chung, Wendy K ; Haeringen, Arie van ; Scheffner, Thomas ; Debray, Francois-Guillaume ; White, Susan M ; Palafoll, Maria Irene Valenzuela ; Pfundt, Rolph ; Newbury-Ecob, Ruth ; Kleefstra, Tjitske

European journal of human genetics : EJHG, 2021-04, Vol.29 (4), p.625-636 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
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Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Bramswig, Nuria C. ; Bertoli-Avella, Aida M. ; Albrecht, Beate ; Al Aqeel, Aida I. ; Alhashem, Amal ; Al-Sannaa, Nouriya ; Bah, Maissa ; Bröhl, Katharina ; Depienne, Christel ; Dorison, Nathalie ; Doummar, Diane ; Ehmke, Nadja ; Elbendary, Hasnaa M. ; Gorokhova, Svetlana ; Héron, Delphine ; Horn, Denise ; James, Kiely ; Keren, Boris ; Kuechler, Alma ; Ismail, Samira ; Issa, Mahmoud Y. ; Marey, Isabelle ; Mayer, Michèle ; McEvoy-Venneri, Jennifer ; Megarbane, Andre ; Mignot, Cyril ; Mohamed, Sarar ; Nava, Caroline ; Philip, Nicole ; Ravix, Cecile ; Rolfs, Arndt ; Sadek, Abdelrahim Abdrabou ; Segebrecht, Lara ; Stanley, Valentina ; Trautman, Camille ; Valence, Stephanie ; Villard, Laurent ; Wieland, Thomas ; Engels, Hartmut ; Strom, Tim M. ; Zaki, Maha S. ; Gleeson, Joseph G. ; Lüdecke, Hermann-Josef ; Bauer, Peter ; Wieczorek, Dagmar

Human genetics, 2018-09, Vol.137 (9), p.753-768 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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