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Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation

✍ Scribed by Lubov Blumkin; Arvid Suls; Tine Deconinck; Peter De Jonghe; Ilan Linder; Sara Kivity; Ron Dabby; Esther Leshinsky-Silver; Dorit Lev; Tally Lerman-Sagie


Book ID
113590691
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
629 KB
Volume
16
Category
Article
ISSN
1090-3798

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Neonatal severe hyperparathyroidism, sec
✍ Cole, David E. C.; Janicic, Natas??a; Salisbury, Sonia R.; Hendy, Geoffrey N. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 43 KB πŸ‘ 2 views

Neonatal severe hyperparathyroidism (NSHPT) is considered an autosomalrecessive disorder, attributable in many cases to homozygous inactivating mutations of the Ca ++ -sensing receptor (CASR) gene at 3q13.3-21. Most heterozygotes are clinically asymptomatic but manifest as familial (benign) hypocalc