Epilepsy in Patients With Duplications of Chromosome 14 Harboring FOXG1

Abstract Background Dup(14q12) harboring FOXG1 has been recently reported in individuals with developmental delay of variable severity, delayed/absent speech, and epilepsy/infantile spasms. FOXG1 was described as a dosage-sensitive gene encoding G1, a forkhead protein that is a brain-specific transc...

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Veröffentlicht in:	Pediatric neurology 2014-05, Vol.50 (5), p.530-535
Hauptverfasser:	Pontrelli, Giuseppe, MD, Cappelletti, Simona, PsyD, Claps, Dianela, MD, Sirleto, Pietro, MLT, Ciocca, Laura, MLS, Petrocchi, Stefano, MLT, Terracciano, Alessandra, MLS, Serino, Domenico, MD, Fusco, Lucia, MD, PhD, Vigevano, Federico, MD, PhD, Specchio, Nicola, MD PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Brain - pathology Brain - physiopathology Child, Preschool chromosome 14 duplication Chromosome Duplication Chromosomes, Human, Pair 14 Electroencephalography epilepsy Epilepsy - genetics Epilepsy - pathology Epilepsy - physiopathology epileptic spasms Forkhead Transcription Factors - genetics FOXG1 genetic Humans Magnetic Resonance Imaging Male Nerve Tissue Proteins - genetics Neurology Pediatrics
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