Alternating hemiplegia of childhood: Retrospective genetic study and genotype-phenotype correlations in 187 subjects from the US AHCF registry

PLoS ONE

Volumn 10, Issue 5, 2015, Pages

  Viollet, Louis ^a   Glusman, Gustavo ^b   Murphy, Kelley J ^a   Newcomb, Tara M ^a   Reyna, Sandra P ^a   Sweney, Matthew ^a   Nelson, Benjamin ^a   Andermann, Frederick ^c   Andermann, Eva ^c   Acsadi, Gyula ^d   Barbano, Richard L ^e   Brown, Candida ^f   Brunkow, Mary E ^b   Chugani, Harry T ^g   Cheyette, Sarah R ^h   Collins, Abigail ⁱ   DeBrosse, Suzanne D ^j   Galas, David ^k   Friedman, Jennifer ^l   Hood, Lee ^b   Huff, Chad ^m   Jorde, Lynn B ^a   King, Mary D ⁿ   LaSalle, Bernie ^a   Leventer, Richard J ^o   Lewelt, Aga J ^p   Massart, Mylynda B ^q   Mérida, Mario R ^r   Ptáček, Louis J ^s   Roach, Jared C ^b   Rust, Robert S ^t   Renault, Francis ^u   Sanger, Terry D ^v   De Menezes, Marcio A Sotero ^w   Tennyson, Rachel ^a   Uldall, Peter ^x   Zhang, Yue ^y   Zupanc, Mary ^z   Xin, Winnie ^aa   Silver, Kenneth ^ab   Swoboda, Kathryn J ^a   more..

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b INSTITUTE FOR SYSTEMS BIOLOGY   (United States)

^c MCGILL UNIVERSITY   (Canada)

^d UNIVERSITY OF CONNECTICUT SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^f Diablo Valley Child Neurology Stanford Health Alliance   (United States)

^g WAYNE STATE UNIVERSITY   (United States)

^h PALO ALTO MEDICAL FOUNDATION   (United States)

ⁱ UNIVERSITY OF COLORADO HOSPITAL   (United States)

^j CASE WESTERN RESERVE UNIVERSITY   (United States)

^k PACIFIC NORTHWEST RESEARCH INSTITUTE   (United States)

^l UNIVERSITY OF CALIFORNIA   (United States)

^m UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

ⁿ UNIVERSITY COLLEGE DUBLIN   (Ireland)

^o UNIVERSITY OF MELBOURNE   (Australia)

^p UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^q UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^r Stevens Henager College   (United States)

^s UNIVERSITY OF CALIFORNIA   (United States)

^t UNIVERSITY OF VIRGINIA HEALTH SYSTEM   (United States)

^u ARMAND TROUSSEAU HOSPITAL   (France)

^v University of Southern California   (United States)

^w SWEDISH MEDICAL CENTER   (United States)

^x UNIVERSITY OF COPENHAGEN   (Denmark)

^y UNIVERSITY OF UTAH   (United States)

^z CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^aa MASSACHUSETTS GENERAL HOSPITAL   (United States)

^ab UNIVERSITY OF CHICAGO   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; ATP1A3 GENE; CHILD; CHILDHOOD ALTERNATING HEMIPLEGIA; CHILDHOOD DISEASE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE REGISTRY; DISEASE SEVERITY; EPILEPTIC STATE; FEMALE; GENE; GENE CLUSTER; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HEMIPLEGIA; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; OUTCOME ASSESSMENT; PRESCHOOL CHILD; PREVALENCE; QUESTIONNAIRE; RETROSPECTIVE STUDY; SCHOOL CHILD; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDY; GENETICS; INFANT; PATHOPHYSIOLOGY; REGISTER;

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

CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HEMIPLEGIA; HUMANS; INFANT; MALE; REGISTRIES; SODIUM-POTASSIUM-EXCHANGING ATPASE;

EID: 84930656876     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0127045     Document Type: Article

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