FLNA genomic rearrangements cause periventricular nodular heterotopia

Neurology

Volumn 78, Issue 4, 2012, Pages 269-278

  Clapham, K R ^a   Yu, T W ^b,c   Ganesh, V S ^a,b,c   Barry, B ^b,c   Chan, Y ^c   Mei, D ^d   Parrini, E ^d   Funalot, B ^e,f   Dupuis, L ^g   Nezarati, M M ^g,i   Du Souich, C ^h   Van Karnebeek, C ^h   Guerrini, R ^d,j   Walsh, C A ^b,c  

^a HARVARD MIT DIVISION OF HEALTH SCIENCES AND TECHNOLOGY   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF FLORENCE   (Italy)

^e Department of Neurology   (France)

^f LIMOGES UNIVERSITY HOSPITAL   (France)

^g HOSPITAL FOR SICK CHILDREN   (Canada)

^h UNIVERSITY OF BRITISH COLUMBIA   (Canada)

ⁱ NORTH YORK GENERAL HOSPITAL   (Canada)

^j DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FILAMIN A; ACTIN BINDING PROTEIN; ANTICONVULSIVE AGENT; CONTRACTILE PROTEIN; DNA; FILAMINS;

ARTICLE; CASE REPORT; CHROMOSOME BREAKAGE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; FEMALE; GENE DELETION; GENE DISRUPTION; GENE DUPLICATION; GENE ISOLATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MALE; MICROARRAY ANALYSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PEDIGREE ANALYSIS; PERIVENTRICULAR HETEROTOPIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEGMENTAL DUPLICATION; ADULT; DRUG RESISTANCE; GENETICS; INFANT; MIDDLE AGED; NEWBORN; NUCLEIC ACID HYBRIDIZATION; PEDIGREE; POINT MUTATION; PREGNANCY; REAL TIME POLYMERASE CHAIN REACTION; SEIZURE;

ADULT; ANTICONVULSANTS; CHROMOSOME BREAKPOINTS; CONTRACTILE PROTEINS; DNA; DNA COPY NUMBER VARIATIONS; DRUG RESISTANCE; EXONS; FEMALE; GENE REARRANGEMENT; HUMANS; INFANT; INFANT, NEWBORN; MICROARRAY ANALYSIS; MICROFILAMENT PROTEINS; MIDDLE AGED; NUCLEIC ACID HYBRIDIZATION; PEDIGREE; PERIVENTRICULAR NODULAR HETEROTOPIA; POINT MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; REAL-TIME POLYMERASE CHAIN REACTION; SEIZURES;

EID: 84857736326     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31824365e4     Document Type: Article

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