✦ LIBER ✦

Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype

✍ Scribed by Mario Mastrangelo; Vincenzo Leuzzi

Book ID: 116826038
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 174 KB
Volume: 46
Category: Article
ISSN: 0887-8994
DOI: 10.1016/j.pediatrneurol.2011.11.003

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Neonatal suppression-burst without epile

Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy

✍ Massimo Mastrangelo, Angela Peron, Luigina Spaccini… 📂 Article 📅 2013 🏛 John Libbey Eurotext 🌐 English ⚖ 840 KB

P131 A novel CDKL5 gene mutation associa

P131 A novel CDKL5 gene mutation associated with a severe Rett syndrome-like phenotype and early onset epileptic encephalopathy

✍ S.D. Mastroyianni; K. Voudris; E. Katsarou; A. Attilakos; D. Delis; A. Triantafi 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 58 KB

P13 – 2112 Mutations in PLCB1 in early i

P13 – 2112 Mutations in PLCB1 in early infantile epileptic encephalopathy: expansion of the phenotypic and genotypic disease spectrum

✍ McTague, A; Wentzensen, I; Meyer, E; Ngoh, A; Applegate, C; Batista, D; Kossof, 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 68 KB

Early-onset osteoarthritis linked to the

Early-onset osteoarthritis linked to the type ii procollagen gene. detailed clinical phenotype and further analyses of the gene

✍ Miikka Vikkula; Aarno Palotie; Pertti Ritvaniemi; JÜRg Ott; Leena Ala-Kokko; Ull 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 876 KB

Objective. To specify in detail the clinical phenotype in 2 Finnish families demonstrating linkage between the type I1 procollagen gene (COL2A1) and osteoarthritis (OA). We also reevaluated the linkage and screened the exon sequences of the COL2Al gene for mutations. Methods. We used single-strande

Phenotypic characteristics of early-onse

Phenotypic characteristics of early-onset autosomal-dominant type 2 diabetes unlinked to known maturity-onset diabetes of the young (MODY) genes

✍ Doria, A.; Yang, Y.; Malecki, M.; Scotti, S.; Dreyfus, J.; O'Keeffe, C.; Orban, 📂 Article 📅 1999 🏛 American Diabetes Association 🌐 English ⚖ 185 KB

From Silent Genes to Noisy Populations—D

From Silent Genes to Noisy Populations—Dialogue Between the Genotype and Phenotypes of Antigenic Variation

✍ LUCIO MARCELLO; J. DAVID BARRY 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 90 KB