$Refractory Photosensitive Epilepsy Associated with a Complex Rearrangement of Chromosome 2$

Refractory Photosensitive Epilepsy Associated with a Complex Rearrangement of Chromosome 2

Abstract We describe the relevant clinical and therapeutic parameters in a single patient with a complex chromosome 2 abnormality presenting with refractory myoclonic photosensitive epilepsy. FISH technology using yeast artificial chromosomes (YACs) was employed to determine breakage points, microde...

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Veröffentlicht in:	Neuropediatrics 2002-12, Vol.33 (6), p.320-323
Hauptverfasser:	Van Esch, H., Syrrou, M., Lagae, L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Beta Rhythm Biological and medical sciences Cerebral Cortex - physiopathology Chromosome aberrations Chromosomes, Human, Pair 2 Electroencephalography Epilepsies, Myoclonic - diagnosis Epilepsies, Myoclonic - genetics Epilepsies, Myoclonic - physiopathology Epilepsy, Reflex - diagnosis Epilepsy, Reflex - genetics Epilepsy, Reflex - physiopathology Evoked Potentials - physiology Follow-Up Studies Gene Rearrangement Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Infant Infant, Newborn Intellectual Disability - diagnosis Intellectual Disability - genetics Intellectual Disability - physiopathology Karyotyping Male Medical genetics Medical sciences Nervous system (semeiology, syndromes) Neurology Short Communication
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