Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications

Brain and Development

Volumn 37, Issue 9, 2015, Pages 874-879

  Yoshitomi, Shinsaku ^a   Takahashi, Yukitoshi ^a   Ishizuka, Mamiko ^a   Yamaguchi, Tokito ^a   Watanabe, Akito ^a   Nasu, Hirosato ^a   Ueda, Yuki ^a   Ohtani, Hideyuki ^a   Ikeda, Hiroko ^a   Imai, Katsumi ^a   Shigematsu, Hideo ^a   Inoue, Yushi ^a   Tanahashi, Yoshihiro ^b   Aiba, Kaori ^c   Ohta, Hodaka ^d   Shimada, Shino ^e   Yamamoto, Toshiyuki ^e  

^a SHIZUOKA INSTITUTE OF EPILEPSY AND NEUROLOGICAL DISORDERS   (Japan)

^b OGAKI MUNICIPAL HOSPITAL   (Japan)

^c TOYOHASHI MUNICIPAL HOSPITAL   (Japan)

^d Mie Prefectural General Medical Center   (Japan)

^e TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

2q24.3 microduplication; Array comparative genomic hybridization array (aCGH); Epileptic spasms; SCN1A; SCN2A; SCN3A

Indexed keywords

CARBAMAZEPINE; CORTICOTROPIN; ETIRACETAM; LAMOTRIGINE; PYRIDOXAL 5 PHOSPHATE; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2; SODIUM CHANNEL NAV1.3; VALPROIC ACID; ZONISAMIDE;

ARTICLE; BRAIN ATROPHY; CASE REPORT; CHILD; CHROMOSOME 2Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; FEBRILE CONVULSION; FEMALE; FOCAL EPILEPSY; FRONTAL LOBE; HUMAN; INFANT; INFANTILE SPASM; LENNOX GASTAUT SYNDROME; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; SEPTUM PELLUCIDUM; BRAIN; CHROMOSOME 2; GENE DUPLICATION; GENETICS; MALE; NEWBORN; PATHOPHYSIOLOGY;

BRAIN; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; GENE DUPLICATION; HUMANS; INFANT, NEWBORN; MALE; SPASMS, INFANTILE;

EID: 84940614004     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2015.03.001     Document Type: Article

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