Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms--a further patient.
Department of Child Neurology and Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland.
Nicholas M
NM
Allen
Judith
J
Conroy
Amre
A
Shahwan
Sean
S
Ennis
Bryan
B
Lynch
Sally A
SA
Lynch
Mary D
MD
King
D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D004569:Electroencephalography; D019066:Facies; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D063868:Patient Outcome Assessment; D010641:Phenotype; D012640:Seizures / Q000175:diagnosis* / Q000235:genetics*; D013036:Spasms, Infantile / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*