The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

Epilepsia

Volumn 56, Issue 12, 2015, Pages e203-e208

  Larsen, Jan ^a   Johannesen, Katrine Marie ^a   Ek, Jakob ^b   Tang, Shan ^c   Marini, Carla ^d   Blichfeldt, Susanne ^e   Kibæk, Maria ^e   Von Spiczak, Sarah ^f   Weckhuysen, Sarah ^g,h,i   Frangu, Mimoza ^j   Neubauer, Bernd Axel ^k   Uldall, Peter ^b   Striano, Pasquale ^l   Zara, Federico ^m   Kleiss, Rebecca ^f   Simpson, Michael ⁿ   Muhle, Hiltrud ^f   Nikanorova, Marina ^a,o   Jepsen, Birgit ^a   Tommerup, Niels ^p   Stephani, Ulrich ^f   Guerrini, Renzo ^d   Duno, Morten ^b   Hjalgrim, Helle ^a,n   Pal, Deb ^q   Helbig, Ingo ^e,r   Møller, Rikke Steensbjerre ^a,o   Craiu, D C ^s,t   Caglayan, H S ^u   Talvik, T ^v,w   Weber, Y G ^x   Barisic, N ^y   more..

^a DANISH EPILEPSY CENTRE   (Denmark)

^b International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health   (Denmark)

^c GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^d UNIVERSITY OF FLORENCE   (Italy)

^e ODENSE UNIVERSITY HOSPITAL   (Denmark)

^f UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^g DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^h UNIVERSITY OF ANTWERP   (Belgium)

ⁱ INSERM   (France)

^j HOLBÆK HOSPITAL   (Denmark)

^k UNIVERSITY HOSPITAL GIESSEN   (Germany)

^l UNIVERSITY OF GENOA   (Italy)

^m G GASLINI INSTITUTE   (Italy)

ⁿ GUY S HOSPITAL   (United Kingdom)

^o UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^p UNIVERSITY OF COPENHAGEN   (Denmark)

^q KING'S COLLEGE LONDON   (United Kingdom)

^r CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^s CAROL DAVILA UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^t Department Doctor Alexandru Obregia Clinical Hospital ^*  (Romania)

^u BOGAZICI UNIVERSITY   (Turkey)

^v UNIVERSITY OF TARTU   (Estonia)

^w TARTU UNIVERSITY HOSPITAL   (Estonia)

^x UNIVERSITY OF TÜBINGEN   (Germany)

^y KBC Zagreb   (Croatia)

more..

Author keywords

Childhood neurology; Epilepsy genetics; Glucose transporter 1 deficiency syndrome

Indexed keywords

GLUCOSE TRANSPORTER 1; GLUCOSE TRANSPORTER; SLC2A1 PROTEIN, HUMAN;

ARTICLE; CHILD; CONTROLLED STUDY; DANISH CITIZEN; EARLY ONSET ABSENCE EPILEPSY; EPILEPSY; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GLUCOSE TRANSPORTER 1 DEFICIENCY SYNDROME; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MOTOR DYSFUNCTION; MUTATIONAL ANALYSIS; MYOCLONIC ASTATIC EPILEPSY; PREVALENCE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SLC2A1 GENE; ABSENCE; CARBOHYDRATE METABOLISM, INBORN ERRORS; DEFICIENCY; DENMARK; GENERALIZED EPILEPSY; GENETICS; INFANT; MUTATION; MYOCLONUS EPILEPSY; PHYSIOLOGY; PRESCHOOL CHILD; SYNDROME;

CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD, PRESCHOOL; DENMARK; EPILEPSIES, MYOCLONIC; EPILEPSY, ABSENCE; EPILEPSY, GENERALIZED; GLUCOSE TRANSPORTER TYPE 1; HUMANS; INFANT; MONOSACCHARIDE TRANSPORT PROTEINS; MUTATION; SYNDROME;

EID: 84951567419     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.13222     Document Type: Article

References (13)

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