De novo 15q13.3 microdeletion with cryptogenic west syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 10, 2013, Pages 2582-2587

  Lacaze, Elodie ^a   Gruchy, Nicolas ^a   Penniello Valette, Marie José ^a   Plessis, Ghislaine ^a   Richard, Nicolas ^a   Decamp, Mathieu ^a   Mittre, Hervé ^a   Leporrier, Nathalie ^a   Andrieux, Joris ^b   Kottler, Marie Laure ^a   Gerard, Marion ^a  

^a CHU CÔTE DE NACRE   (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

15q13.3 microdeletion; Array CGH; CHRNA7; Epilepsy; West syndrome

Indexed keywords

BUNGAROTOXIN RECEPTOR; VIGABATRIN;

ARTICLE; BRADYCARDIA; CASE REPORT; CHILD; CHRNA7 GENE; CHROMOSOME 15Q; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; ELECTROENCEPHALOGRAM; GENE LOCATION; GENE LOCUS; HUMAN; HYPSARRHYTHMIA; INFANTILE SPASM; MALE; OUTCOME ASSESSMENT; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SEQUENCE ANALYSIS; SOUTHERN BLOTTING; SPEECH DELAY; WEST SYNDROME;

15Q13.3 MICRODELETION; ARRAY-CGH; CHRNA7; EPILEPSY; WEST SYNDROME;

ADULT; ALPHA7 NICOTINIC ACETYLCHOLINE RECEPTOR; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; ELECTROENCEPHALOGRAPHY; FACIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MALE; SEIZURES; SPASMS, INFANTILE;

EID: 84884989657     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36085     Document Type: Article

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