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KCNQ2 and KCNQ3 are two homologous K(+) channel subunits that can combine to form heterotetrameric channels with properties of neuronal M channels. Loss-of-function mutations in either subunit can lead to benign familial neonatal convulsions (BFNC), a generalized, idiopathic epilepsy of the newborn. We now describe a syndrome in which BFNC is followed later(More)
PURPOSE To gain further insight into the pathogenesis of progressive facial hemiatrophy, a sporadic disease of unclear etiology characterized by shrinking and deformation of one side of the face. METHODS We investigated possible brain involvement. MR of the head and face was performed in three female patients with progressive facial hemiatrophy. The(More)
Proximal myotonic myopathy/myotonic dystrophy type 2 (PROMM/DM 2) is caused by an expansion of the (TG)n(TCTG)n(CCTG)n repeat tract in intron 1 of the ZNF9 gene located on chromosome 3q21. Because these expansions show a marked mitotic instability, expanded alleles are often difficult to detect. In order to improve the diagnostic procedure, we applied a(More)
UNLABELLED Progressive facial hemiatrophy (PFH) is a sporadic disease of unclear etiology, characterized by shrinking and deformation of one side of the face. Reports and interpretations of CNS involvement in PFH, as deduced from the occurrence of seizures in some patients and documented by pneumoencephalography and CT findings in small series of patients,(More)
Diagnosis, long-term management and family investigations of Wilson's disease are provided by selected clinical institutions in the GDR. From 187 patients detected since 1949, 111 are alive. In spite of the principal effectiveness of penicillamine treatment, confirmed by the disappearance of most of the central nervous system symptoms and successful(More)