Two unrelated families with X-linked infantile spasm syndrome were studied genetically by two-point and multipoint linkage analyses at the University Hospital Gasthuisberg, and Center for Human Genetics, University of Leuven, and University of Antwerp, Belgium.
X Chromosome, X-Linked Infantile Spasm, Zonisamide
X-Linked Charcot-Marie-Tooth Disease in 93 Patients
The clinical, electrophysiological and genetic features of 93 patients (41 males, 52 females) from 37 unrelated families with X-linked dominant Charcot-Marie-Tooth (CMTX) disease are reported from the Hopital de la Salpetriere, Paris, France.
Molecular Genetic Testing, Nonfunctional Mutations, Electrophysiological and Genetic Features