GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy

Annals of Neurology

Volumn 82, Issue 3, 2017, Pages 466-478

  Yoo, Yongjin ^a   Jung, Jane ^b   Lee, Yoo Na ^c   Lee, Youngha ^a   Cho, Hyosuk ^a   Na, Eunjung ^b   Hong, JeaYeok ^b   Kim, Eunjin ^b   Lee, Jin Sook ^d   Lee, Je Sang ^e   Hong, Chansik ^f   Park, Sang Yoon ^g   Wie, Jinhong ^a   Miller, Kathryn ^h   Shur, Natasha ^h   Clow, Cheryl ^h   Ebel, Roseànne S ⁱ   DeBrosse, Suzanne D ⁱ   Henderson, Lindsay B ^j   Willaert, Rebecca ^j   Castaldi, Christopher ^k   Tikhonova, Irina ^k   Bilgüvar, Kaya ^k   Mane, Shrikant ^k   Kim, Ki Joong ^l   Hwang, Yong Seung ^l   Lee, Seok Geun ^g   So, Insuk ^a   Lim, Byung Chan ^l   Choi, Hee Jung ^m   Seong, Jae Young ^c   Shin, Yong Beom ^e   Jung, Hosung ^b   Chae, Jong Hee ^l   Choi, Murim ^a,l   more..

^a Seoul National University College of Medicine   (South Korea)

^b Yonsei University College of Medicine   (South Korea)

^c Korea University College of Medicine   (South Korea)

^d Gachon University   (South Korea)

^e Pusan National University School of Medicine   (South Korea)

^f Chosun University   (South Korea)

^g Kyung Hee University   (South Korea)

^h ALBANY MEDICAL CENTER   (United States)

ⁱ Center for Human Genetics   (United States)

^j GENEDX   (United States)

^k YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^l Seoul National University Children's Hospital   (South Korea)

^m Seoul National University   (South Korea)

more..

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID; METHYL CPG BINDING PROTEIN 2; 4 AMINOBUTYRIC ACID B RECEPTOR; GABBR2 PROTEIN, HUMAN; MECP2 PROTEIN, HUMAN;

ANIMAL EXPERIMENT; ARTICLE; BRAIN DISEASE; CELL CULTURE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EPILEPTIC ENCEPHALOPATHY; GABAB RECEPTOR R2 GENE; GENE; GENE EXPRESSION; GENE MUTATION; GENE ONTOLOGY; GENETIC VARIABILITY; HUMAN; HUMAN CELL; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; RETT SYNDROME; SIGNAL TRANSDUCTION; WHOLE EXOME SEQUENCING; XENOPUS TROPICALIS; EXOME; GENETICS; GENOTYPE; HEK293 CELL LINE; INFANTILE SPASM; MUTATION;

EXOME; GENOTYPE; HEK293 CELLS; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MUTATION; PHENOTYPE; RECEPTORS, GABA-B; RETT SYNDROME; SIGNAL TRANSDUCTION; SPASMS, INFANTILE;

EID: 85029805083     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.25032     Document Type: Article

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