Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Philip E. Jardine"'
Publikováno v:
Journal of Pediatric Neurology. :047-051
Two teenage girls with episodic neuropsychiatric symptoms, altered consciousness, collapse and seizures requiring intensive care admissions are presented. Both were euthyroid at presentation and had markedly elevated anti-thyroperoxidase antibody. Ex
Autor:
James Colley, Julian R. Sampson, David Neil Cooper, Daniela T. Pilz, L. P. Lazarou, Alison Kerr, Jytte Bieber Nielsen, John Christodoulou, Kirstine Ravn, Angus John Clarke, Rachel Butler, Sharon D. Whatley, Elizabeth Williams, Jozef Gecz, Michael Wright, Julie Evans, Philip E. Jardine, Hayley Archer
Publikováno v:
European Journal of Human Genetics. 13:1113-1120
Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). Patients with CDKL5 mutations sometimes also show features similar to those seen in Rett Sy
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 4(4)
A child with macrocephaly-cutis marmorata developed severe abdominal pain thought to represent mesenteric angina. There were abnormalities of the aortic and mesenteric vasculature not previously reported in this condition. Angina therapy afforded ame