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by Hamdan, Fadi F and Myers, Candace T and Cossette, Patrick and Lemay, Philippe and Spiegelman, Dan and Laporte, Alexandre Dionne and Nassif, Christina and Diallo, Ousmane and Monlong, Jean and Cadieux-Dion, Maxime and Dobrzeniecka, Sylvia and Meloche, Caroline and Retterer, Kyle and Cho, Megan T and Rosenfeld, Jill A and Bi, Weimin and Massicotte, Christine and Miguet, Marguerite and Brunga, Ledia and Regan, Brigid M and Mo, Kelly and Tam, Cory and Schneider, Amy and Hollingsworth, Georgie and FitzPatrick, David R and Donaldson, Alan and Canham, Natalie and Blair, Edward and Kerr, Bronwyn and Fry, Andrew E and Thomas, Rhys H and Shelagh, Joss and Hurst, Jane A and Brittain, Helen and Blyth, Moira and Lebel, Robert Roger and Gerkes, Erica H and Davis-Keppen, Laura and Stein, Quinn and Chung, Wendy K and Dorison, Sara J and Benke, Paul J and Fassi, Emily and Corsten-Janssen, Nicole and Kamsteeg, Erik-Jan and Mau-Them, Frederic T and Bruel, Ange-Line and Verloes, Alain and Õunap, Katrin and Wojcik, Monica H and Albert, Dara V.F and Venkateswaran, Sunita and Ware, Tyson and Jones, Dean and Liu, Yu-Chi and Mohammad, Shekeeb S and Bizargity, Peyman and Bacino, Carlos A and Leuzzi, Vincenzo and Martinelli, Simone and Dallapiccola, Bruno and Tartaglia, Marco and Blumkin, Lubov and Wierenga, Klaas J and Purcarin, Gabriela and O’Byrne, James J and Stockler, Sylvia and Lehman, Anna and Keren, Boris and Nougues, Marie-Christine and Mignot, Cyril and Auvin, Stéphane and Nava, Caroline and Hiatt, Susan M and Bebin, Martina and Shao, Yunru and Scaglia, Fernando and Lalani, Seema R and Frye, Richard E and Jarjour, Imad T and Jacques, Stéphanie and Boucher, Renee-Myriam and Riou, Emilie and Srour, Myriam and Carmant, Lionel and Lortie, Anne and Major, Philippe and Diadori, Paola and Dubeau, François and D’Anjou, Guy and Bourque, Guillaume and Berkovic, Samuel F and Sadleir, Lynette G and Campeau, Philippe M and Kibar, Zoha and Lafrenière, Ronald G and Girard, Simon L and Mercimek-Mahmutoglu, Saadet and Boelman, Cyrus and Rouleau, Guy A and ... and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 664 - 685
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The American Journal of Human Genetics, ISSN 0002-9297, 11/2015, Volume 97, Issue 5, pp. 744 - 753
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Neurology, ISSN 0028-3878, 03/2015, Volume 84, Issue 11, pp. e78 - e80
Andersen-Tawil syndrome (ATS) is one of the periodic paralyses. This autosomal dominant disorder was initially named after Andersen, who in 1971 reported the... 
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Nature Genetics, ISSN 1061-4036, 11/2013, Volume 45, Issue 11, pp. 1300 - 1310
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Epileptic Disorders, ISSN 1294-9361, 12/2018, Volume 20, Issue 6, pp. 545 - 550
ABSTRACT Hemiconvulsion‐Hemiplegia‐Epilepsy initially involves an infantile presentation of febrile focal motor status epilepticus, with subsequent hemiplegia... 
status epilepticus | cobalamin | B12 | HHE | Cblc | cobalamin C deficiency | Hemiconvulsion‐Hemiplegia‐Epilepsy | febrile | Hemiconvulsion-Hemiplegia-Epilepsy | HOMOCYSTEINE | COMBINED METHYLMALONIC ACIDEMIA | CLINICAL NEUROLOGY | CHILDREN | Edema | Convulsions & seizures | Epilepsy | Hemiplegia | Midazolam | Children | Vitamin B12 | Metabolism | Metabolic disorders | Seizures
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 03/2015, Volume 84, Issue 11, pp. e78 - e80
Andersen-Tawil syndrome (ATS) is one of the periodic paralyses. This autosomal dominant disorder was initially named after Andersen, who in 1971 reported the... 
PHENOTYPE | MUTATIONS | CLINICAL NEUROLOGY | KIR2.1 | Diagnosis, Differential | Muscle Weakness - diagnosis | Humans | Adolescent | Andersen Syndrome - diagnosis | Male | Muscle Weakness - genetics | Andersen Syndrome - genetics
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Journal Article
Nature Genetics, ISSN 1061-4036, 03/2017, Volume 49, Issue 4, pp. 511 - 514
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Human Mutation, ISSN 1059-7794, 2015, Volume 36, Issue 1, pp. 69 - 78
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Journal of Medical Genetics, ISSN 0022-2593, 10/2012, Volume 49, Issue 10, pp. 636 - 641
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