A Case of Pallister–Killian Syndrome Associated with West Syndrome
- 30 September 2007
- journal article
- case report
- Published by Elsevier BV in Pediatric Neurology
- Vol. 37 (3), 226-228
- https://doi.org/10.1016/j.pediatrneurol.2007.05.001
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- Pallister–Killian syndrome: an unusual cause of epileptic spasmsDevelopmental Medicine and Child Neurology, 2005
- Long-term outcome of patients with West syndromeBrain & Development, 2001
- Report of two new cases of Pallister-Killian syndrome confirmed by FISH: Tissue-specific mosaicism and loss of i(12p) by in vitro selectionAmerican Journal of Medical Genetics, 1997
- Pallister-Killian syndrome: A mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotypeAmerican Journal of Medical Genetics, 1996
- Combination Therapy of Infantile Spasms With High-Dose Pyridoxal Phosphate and Low-Dose CorticotropinJournal of Child Neurology, 1996
- Pallister-Killian syndrome in older children and adolescentsPediatric Neurology, 1993
- New diagnostic method for Pallister‐Killian syndrome: Detection of i(12p) in interphase nuclei of buccal mucosa by fluorscence in situ hybridizationAmerican Journal of Medical Genetics, 1993
- Pallister-killian syndrome: Characterization of the isochromosome 12p by fluorescentIn Situ hybridizationAmerican Journal of Medical Genetics, 1991
- Vitamin B6 and valproic acid in treatment of infantile spasmsPediatric Neurology, 1991
- Mosaic tetrasomy 12p: Four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister‐Mosaic syndrome casesAmerican Journal of Medical Genetics, 1987