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Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX

โœ Scribed by Renske Oegema; Anneke Maat-Kievit; Maarten H. Lequin; Rachel Schot; Veerle M.H. Nanninga- van den Neste; Marianne E. Doornbos; Marie C.Y. de Wit; Dicky J. Halley; Grazia M.S. Mancini


Book ID
111995192
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
244 KB
Volume
158A
Category
Article
ISSN
1552-4825

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We report on a patient with agenesis of the corpus callosum (ACC), severe mental retardation, infantile spasms and subsequent intractable epilepsy, spastic/dyskinetic quadriparesis, severe limb contractures, and scoliosis. This complex, newly described phenotype, is due to a novel non-conservative m