A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females
- Author
- EKSIOGLU, Yaman Z1 2 ; PONG, Amanda W1 2 ; TAKEOKA, Masanori1 2
[1] Department of Neurology, Children's Hospital Boston, Boston, Massachusetts, United States
[2] Harvard Medical School, Boston, Massachusetts, United States - Source
Epilepsia (Copenhagen). 2011, Vol 52, Num 5, pp 984-992, 9 p ; ref : 1 p.1/4
- Publisher
- Wiley-Blackwell, Malden, MA
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- ARX Early infantile epileptic encephalopathy Interneurons Neuropsychiatric disorders Ohtahara syndrome
- Keyword (fr)
- Anomalie de la différenciation sexuelle Encéphalopathie Enfant Epilepsie Mutation Neurone intermédiaire Pathologie du système nerveux Trouble du développement Homme Pathologie de l'encéphale Pathologie du système nerveux central
- Keyword (en)
- Sexual differentiation disorder Encephalopathy Child Epilepsy Mutation Interneuron Nervous system diseases Developmental disorder Human Cerebral disorder Central nervous system disease
- Keyword (es)
- Anomalía diferenciación sexual Encefalopatía Niño Epilepsia Mutación Neurona intermediaria Sistema nervioso patología Trastorno desarrollo Hombre Encéfalo patología Sistema nervosio central patología
- Classification
- 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 / 002B23E Complex syndromes
- Discipline
- Medical genetics Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 24253663
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
10.1111/j.1528-1167.2011.02980.x 
https://dx.doi.org/10.1111/j.1528-1167.2011.02980.x
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