𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Familial neonatal and infantile seizures: An autosomal-dominant disorder

✍ Scribed by Zonana, Jonathan ;Silvey, Kerry ;Strimling, Bruce


Publisher
John Wiley and Sons
Year
1984
Tongue
English
Weight
318 KB
Volume
18
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Benign familial neonatal-infantile seizu
✍ Kaplan, Robert E. ;Lacey, Daniel J. ;Opitz, John M. πŸ“‚ Article πŸ“… 1983 πŸ› John Wiley and Sons 🌐 English βš– 297 KB
Autosomal dominant benign neonatal seizu
✍ Cunniff, Christopher ;Wiedlin, Nancy ;Jones, Kenneth Lyons πŸ“‚ Article πŸ“… 1988 πŸ› John Wiley and Sons 🌐 English βš– 268 KB
Benign familial neonatal-infantile seizu
✍ Samuel F. Berkovic; Sarah E. Heron; Lucio Giordano; Carla Marini; Renzo Guerrini πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 142 KB

## Abstract We recently reported mutations in the sodium channel gene __SCN2A__ in two families with benign familial neonatal‐infantile seizures (BFNISs). Here, we aimed to refine the molecular‐clinical correlation of __SCN2A__ mutations in early childhood epilepsies. __SCN2A__ was analyzed in 2 fa

Dermo-distortive urticaria: An autosomal
✍ Epstein, Paul A. ;Kidd, Kenneth K. ;Opitz, John M. πŸ“‚ Article πŸ“… 1981 πŸ› John Wiley and Sons 🌐 English βš– 562 KB

## Abstract A new hereditary physical urticaria, dermo‐distortive urticaria (DDU), is described in a Christian Lebanese family. DDU is characterized by the appearance of pruritic, erythematous, edematous, cutaneous swelling confined to the stimulated area in response to stimuli that vibrate or stre

WHIM syndrome, an autosomal dominant dis
✍ Gorlin, Robert J.; Gelb, Bruce; Diaz, George A.; Lofsness, Karen G.; Pittelkow, πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 55 KB πŸ‘ 2 views

The acronym WHIM refers to Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. The latter refers to the retention of white cells in the marrow, which becomes hypercellular. We have found approximately 20 examples of WHIM syndrome in the literature under various designations; the first examp