Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

American Journal of Human Genetics

Volumn 86, Issue 6, 2010, Pages 881-891

  Saitsu, Hirotomo ^a   Tohyama, Jun ^b   Kumada, Tatsuro ^c   Egawa, Kiyoshi ^c   Hamada, Keisuke ^a   Okada, Ippei ^a   Mizuguchi, Takeshi ^a   Osaka, Hitoshi ^d   Miyata, Rie ^e   Furukawa, Tomonori ^c   Haginoya, Kazuhiro ^f   Hoshino, Hideki ^g   Goto, Tomohide ^h   Hachiya, Yasuo ⁱ   Yamagata, Takanori ^j   Saitoh, Shinji ^k   Nagai, Toshiro ^l   Nishiyama, Kiyomi ^a   Nishimura, Akira ^a   Miyake, Noriko ^a   Komada, Masayuki ^m   Hayashi, Kenji ^a   Hirai, Syu ichi ^a   Ogata, Kazuhiro ^a   Kato, Mitsuhiro ⁿ   Fukuda, Atsuo ^c   Matsumoto, Naomichi ^a   more..

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^c HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^e Tokyo Kita Shakai Hoken Hospital   (Japan)

^f TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^h TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

ⁱ TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

^j JICHI MEDICAL UNIVERSITY   (Japan)

^k HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^l DOKKYO MEDICAL UNIVERSITY   (Japan)

^m TOKYO INSTITUTE OF TECHNOLOGY   (Japan)

ⁿ YAMAGATA UNIVERSITY   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

(1 BUTYLAMINO 3 METHYLBUTYL)(1 PYRROLIDINYL) KETONE; ALPHA II SPECTRIN; ANKYRIN; ANKYRIN G; BETA II SPECTRIN; FODRIN; MEMBRANE PROTEIN; MUNC18 PROTEIN; UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL;

ACTION POTENTIAL; ARTICLE; BRAIN CELL; BRAIN DISEASE; CEREBRAL HYPOMYELINATION; CHROMOSOME 9Q; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE CLUSTER; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION REGULATION; GENE MUTATION; HUMAN; INFANT; LENNOX GASTAUT SYNDROME; LYMPHOBLASTOID CELL; MALE; MOUSE; MUTANT; NERVE FIBER; NONHUMAN; NUCLEOTIDE SEQUENCE; PARALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN AGGREGATION; SPASTIC TETRAPLEGIA; VISUAL DISORDER; WEST SYNDROME; WILD TYPE; ZEBRA FISH;

AMINO ACID SEQUENCE; ANIMALS; BRAIN; CELLS, CULTURED; DEVELOPMENTAL DISABILITIES; HUMANS; INFANT; MICE; MOLECULAR SEQUENCE DATA; MYELIN SHEATH; PHENOTYPE; QUADRIPLEGIA; SPASMS, INFANTILE; SPECTRIN; TRANSFECTION;

DANIO RERIO;

EID: 77953120288     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.04.013     Document Type: Article

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