Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia

Neuropathology

Volumn 33, Issue 5, 2013, Pages 553-560

  Okumura, Akihisa ^a   Hayashi, Masaharu ^b   Shimojima, Keiko ^c   Ikeno, Mitsuru ^a   Uchida, Tomohisa ^e   Takanashi, Jun Ichi ^f   Okamoto, Nobuhiko ^g   Hisata, Ken ^a   Shoji, Hiromichi ^a   Saito, Akira ^d   Furukawa, Toru ^c   Kishida, Tetsuko ^e   Shimizu, Toshiaki ^a   Yamamoto, Toshiyuki ^c  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d Kuramae Orashion Bldg 9F   (Japan)

^e OITA UNIVERSITY   (Japan)

^f KAMEDA MEDICAL CENTER   (Japan)

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

Author keywords

Brainstem malformation; Exome sequence; Filamin B; Periventricular nodular heterotopia; Polymicrogyria

Indexed keywords

BRAIN PROTEIN; CHROMOSOME X OPEN READING FRAME 59 PROTEIN; FILAMIN; FILAMIN B; GUANYLATE BINDING PROTEIN FAMILY MEMBER 6; UNCLASSIFIED DRUG;

ARTICLE; AUTOPSY; BRAIN MALFORMATION; CASE REPORT; CLONIC SEIZURE; CRANIAL NERVE PARALYSIS; DISEASE SEVERITY; EXOME; FACIAL NERVE DISEASE; FACIAL NERVE PARALYSIS; GENE SEQUENCE; GENETIC VARIABILITY; GLOSSOPHARYNGEAL NERVE DISEASE; HUMAN; LOW SET EAR; MALE; MICROGNATHIA; MICROGYRIA; MIDBRAIN TECTAL HYPERPLASIA; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEWBORN; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIVENTRICULAR HETEROTOPIA; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSYCHOMOTOR DISORDER;

BRAINSTEM MALFORMATION; EXOME SEQUENCE; FILAMIN B; PERIVENTRICULAR NODULAR HETEROTOPIA; POLYMICROGYRIA;

BRAIN; DNA MUTATIONAL ANALYSIS; EXOME; FILAMINS; GYRUS CINGULI; HUMANS; HYPERPLASIA; INFANT; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; PERIVENTRICULAR NODULAR HETEROTOPIA; TECTUM MESENCEPHALI;

EID: 84884989821     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/neup.12007     Document Type: Article

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