Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood - A study of 155 patients

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Panagiotakaki, Eleni ^a,v   de Grandis, Elisa ^v   Stagnaro, Michela ^b,v   Heinzen, Erin L ^c   Fons, Carmen ^d,v   Sisodiya, Sanjay ^e,v   De Vries, Boukje ^f   Goubau, Christophe ^g   Weckhuysen, Sarah ^h   Kemlink, David ^i,v   Scheffer, Ingrid ^j,v   Lesca, Gaëtan ^k,l   Rabilloud, Muriel ^m   Klich, Amna ^m   Ramirez Camacho, Alia ^a,d   Ulate Campos, Adriana ^d,v   Campistol, Jaume ^d   Giannotta, Melania ^n,v   Moutard, Marie Laure ^o   Doummar, Diane ^o   Hubsch Bonneaud, Cecile ^p   Jaffer, Fatima ^e   Cross, Helen ^q   Gurrieri, Fiorella ^r,v   Tiziano, Danilo ^r,v   Nevsimalova, Sona ^i,v   Nicole, Sophie ^s,t   Neville, Brian ^q   van den Maagdenberg, Arn M J M ^v   Mikati, Mohamad ^c,v   Goldstein, David B ^c   Vavassori, Rosaria ^u,v   Arzimanoglou, Alexis ^a,l,v   Bassi, Maria Teresa ^v   Borgatti, Renato ^v   Cernetti, Roberta ^v   Di Rosa, Gabriella ^v   Franchini, Filippo ^v   Gambardella, Antonio ^v   Giacanelli, Manlio ^v   Gobbi, Giuseppe ^v   Granata, Tiziana ^v   Guerrini, Renzo ^v   Incorpora, Gemma ^v   Nardocci, Nardo ^v   Neri, Giovanni ^v   Ragona, Francesca ^v   Santucci, Margherita ^v   Sartori, Stefano ^v   Veneselli, Edvige ^v   Vigevano, Federico ^v   Zucca, Claudio ^v   Aicardi, J ^v   An, I ^v   Arbues, A S ^v   Arzimanoglou, A ^v   Bahi Buisson, N ^v   Barthez, M A ^v   Billette de Villemeur, T ^v   Bourgeois, M ^v   Bru, M ^v   Chabrol, B ^v   Chaigne, D ^v   Chaunu, M P ^v   Chaunu, C ^v   Cournelle, A M ^v   Davoine, C S ^v   De St Martin, A ^v   Deny, B ^v   Desguerres, I ^v   Des Portes, V ^v   Doummar, D ^v   Dulac, O ^v   Dusser, A ^v   Gerard, M ^v   Gitiaux, C ^v   Godet Kiesel, I ^v   Gokben, S ^v   Goutieres, F ^v   Guerrin, M H ^v   Heron Longe, B ^v   Hubsch Bonneaud, C ^v   Hully, M ^v   Husson, M ^v   Husson, Ch ^v   Kaminska, A ^v   Laroche, C ^v   Lazaro, L ^v   Lepine, A ^v   Magy, L ^v   Marchal, C ^v   Michel, J ^v   Milh, M ^v   Motte, J ^v   Moutard, M L ^v   Napuri, S ^v   Nassogne, M C ^v   Neau, J P ^v   Nicole, S ^v   Panagiotakaki, E ^v   Passemard, S ^v   Pedespan, J M ^v   Penniello Valette, M J ^v   Poncelin, D ^v   Ponsot, G ^v   Poulat, A L ^v   Pouplard, F ^v   Rabilloud, M ^v   Riant, F ^v   Rivier, F ^v   Roelens, P ^v   Roubergue, A ^v   Sanlaville, D ^v   Tardieu, M ^v   Veyrieres, S ^v   de Jonghe, Peter ^v   Goubeau, Christophe ^v   Krepelova, Anna ^v   Kolnikova, Miriam ^v   Sykora, Pavol ^v   Kaski, Juan ^v   Hanna, Michael ^v   Houlden, Henry ^v   Cancho, Ramón ^v   Eiris, Jesús ^v   López Laso, Eduardo ^v   Velázquez, Ramón ^v   Carilho, Ines ^v   Ozelius, Laurie ^v   Suls, Arvid ^v   Ceulemans, Berten ^v   Buyse, Gunnar ^v   di Michele, Michela ^v   Ferrari, Michel ^v   Peeters Scholte, Cacha M P C D ^v   more..

^a HFME   (France)

^b UNIVERSITY OF GENOA   (Italy)

^c DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d HOSPITAL SANT JOAN DE DÉU   (Spain)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^g UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^h DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

ⁱ CHARLES UNIVERSITY   (Czech Republic)

^j UNIVERSITY OF MELBOURNE   (Australia)

^k UNIVERSITÉ LYON 1   (France)

^l LYON NEUROSCIENCE RESEARCH CENTER   (France)

^m LABORATOIRE DE BIOMÉTRIE ET BIOLOGIE EVOLUTIVE   (France)

ⁿ MAGGIORE HOSPITAL   (Italy)

^o ARMAND TROUSSEAU HOSPITAL   (France)

^p PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^q UNIVERSITY COLLEGE LONDON   (United Kingdom)

^r FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^s INSERM   (France)

^t CNRS   (France)

^u Associazione Italiana per la Sindrome di Emiplegia Alternante (AISEA) Onlus   (Italy)

^v Associazione Italiana per la Sindrome di Emiplegia Alternante ^*

more..

Author keywords

Alternating hemiplegia of childhood; ATP1A3; Genotype phenotype

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATP1A3 GENE; CHILD; CHILDHOOD DISEASE; COHORT ANALYSIS; DISEASE SEVERITY; EPILEPSY; FEMALE; GENE CLUSTER; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEMIPLEGIA; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MOTOR DYSFUNCTION; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; SEIZURE; GENETIC ASSOCIATION STUDY; GENETICS; HEALTH SURVEY; MIDDLE AGED; MUTATION; PROGNOSIS; YOUNG ADULT;

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); ATP1A3 PROTEIN, HUMAN;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; HEALTH SURVEYS; HEMIPLEGIA; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PROGNOSIS; SODIUM-POTASSIUM-EXCHANGING ATPASE; YOUNG ADULT;

EID: 84942433711     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0335-5     Document Type: Article

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