Clinical and genetic investigation of 17 Japanese patients with hyperekplexia

Developmental Medicine and Child Neurology

Volumn 57, Issue 4, 2015, Pages 372-377

  Mine, Jun ^a   Taketani, Takeshi ^a,b   Yoshida, Kazushi ^c   Yokochi, Fusako ^d   Kobayashi, Junpei ^d   Maruyama, Koichi ^e   Nanishi, Etsuro ^f   Ono, Mayumi ^g   Yokoyama, Atsushi ^h   Arai, Hidee ⁱ   Tamaura, Shiho ^j   Suzuki, Yasuhiro ^k   Otsubo, Shusuke ^l   Hayashi, Takashi ^m   Kimura, Masahiko ⁿ   Kishi, Kazuko ^a   Yamaguchi, Seiji ^a  

^a SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

^b SHIMANE UNIVERSITY HOSPITAL   (Japan)

^c Matsudo City Hospital   (Japan)

^d TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

^e Center Hospital   (Japan)

^f YAMAGUCHI RED CROSS HOSPITAL   (Japan)

^g SAPPORO MEDICAL UNIVERSITY   (Japan)

^h TOTTORI UNIVERSITY   (Japan)

ⁱ CHIBA CHILDREN'S HOSPITAL   (Japan)

^j JA Onomichi General Hospital   (Japan)

^k RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^l Otsubo Kodomo Clinic   (Japan)

^m Department of Developmental Medicine Nishikawa Clinic   (Japan)

ⁿ Kimura Children and Family Clinic   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; CLONAZEPAM; VALPROIC ACID; GLRB PROTEIN, HUMAN; GLYCINE RECEPTOR; GLYCINE RECEPTOR ALPHA1;

ADOLESCENT; ADULT; ANXIETY NEUROSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BIRTH; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; DIZZINESS; DRUG SUBSTITUTION; DRUG WITHDRAWAL; EPILEPSY; FEMALE; GENE MUTATION; GENETIC SCREENING; GENETIC TRAIT; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPEREKPLEXIA; INFANT; INGUINAL HERNIA; JAPANESE (PEOPLE); LOW DRUG DOSE; MALE; MIDDLE AGED; MUSCLE RIGIDITY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SOMNOLENCE; STARTLE REFLEX; TREATMENT OUTCOME; TREATMENT RESPONSE; UMBILICAL HERNIA; GENETICS; JAPAN; NEWBORN; PATHOPHYSIOLOGY; PEDIGREE; PHYSIOLOGY; STIFF-PERSON SYNDROME;

ADOLESCENT; ADULT; CHILD; DISEASE PROGRESSION; FEMALE; HERNIA, UMBILICAL; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; MALE; MIDDLE AGED; MUSCLE RIGIDITY; PEDIGREE; RECEPTORS, GLYCINE; REFLEX, STARTLE; STIFF-PERSON SYNDROME;

EID: 84925072713     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.12617     Document Type: Article

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