Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
- Author
- BRUNETTI-PIERRI, Nicola1 ; PACIORKOWSKI, Alex R2 ; RUIVENKAMP, Claudia6 ; BERTRAND, Mary2 ; DE RAVEL, Thomy Jl7 ; JAYAKAR, Parul8 ; BELLI, Serena9 ; ROCCHETTI, Katia10 ; PANTALEONI, Chiara11 ; D'ARRIGO, Stefano11 ; HUGHES, Jeff1 ; SAU WAI CHEUNG1 ; CICCONE, Roberto3 ; ZUFFARDI, Orsetta12 3 ; STANKIEWICZ, Pawel1 13 ; MINA, Erika Della3 ; BONAGLIA, Maria Clara4 ; BORGATTI, Renato4 ; SCHAAF, Christian P1 ; SUTTON, V. Reid1 ; ZHILIAN XIA1 ; JELLUMA, Naftha5
[1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States
[2] Division of Pediatric & Developmental Neurology, Department of Neurology, Washington University in St Louis, St Louis, MO, United States
[3] Biologia Generale e Genetica Medica, Unlversità di Pavia, Pavia, Italy
[4] Scientific Institute Eugenio Medea, Bosisio Parini, Lecco, Italy
[5] Ipse de Bruggen, Centre for People with Intellectual Disability, Zwammerdam, Netherlands
[6] Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, Netherlands
[7] Centre for Human Genetics, Leuven, Belgium
[8] Division of Genetics and Metabolism, Miami Children's Hospital, Miami, FL, United States
[9] Servizio di Genetica Medica Dip. Laboratorio APSS, Trento, Italy
[10] NPI Ospedale Santa Chiara, Trento, Italy
[11] Developmental Neurology Unit, C Besta Foundation Neurological Institute, Milan, Italy
[12] IRCCS C. Mondino, Pavia, Italy
[13] Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland - Source
European journal of human genetics. 2011, Vol 19, Num 1, pp 102-107, 6 p ; ref : 27 ref
- Publisher
- Nature Publishing Group, Basingstoke
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- FOXG1 array CGH developmental delay infantile spasms speech delay
- Keyword (fr)
- Arriération mentale Duplication chromosomique Enfant Epilepsie Grave Génétique Retard langage Spasme Trouble du développement Forme grave Aberration chromosomique Chromosome anormal Déficience intellectuelle Homme Pathologie de l'encéphale Pathologie du système nerveux central Pathologie du système nerveux Trouble de la communication Trouble du langage
- Keyword (en)
- Mental retardation Chromosome duplication Child Epilepsy Severe Genetics Language retardation Spasm Developmental disorder Chromosomal aberration Abnormal chromosome Intellectual deficiency Human Cerebral disorder Central nervous system disease Nervous system diseases Communication disorder Language disorder
- Keyword (es)
- Retraso mental Duplicación cromosómica Niño Epilepsia Grave Genética Retardo lenguaje Espasmo Trastorno desarrollo Aberración cromosómica Cromosoma anormal Deficiencia intelectual Hombre Encéfalo patología Sistema nervosio central patología Sistema nervioso patología Trastorno comunicación Trastorno lenguaje
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A03 Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 23838251
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/ejhg.2010.142 
https://dx.doi.org/10.1038/ejhg.2010.142
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