We found evidence for linkage of BECTS to a region on chromosome 15q14. Either the alpha 7 AChR subunit gene or a closely linked gene are implicated in pedigrees with BECTS. The disorder is genetically heterogeneous. Surprisingly, the same chromosomal area has been reported to be linked to the phenotype in families with an auditory neurophysiologic deficit as well as in families with juvenile myoclonic epilepsy, another idiopathic but generalized epilepsy syndrome.

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Summary: Purpose:The electroencephalographic hallmark of benign childhood epilepsy with centrotemporal spikes (BECTS, or rolandic epilepsy) are characteristically shaped centrotemporal spikes and sharp waves (CTS). This EEG trait, but not BECTS itself, has been reported to follow an autosomal dominant mode of inheritance with incomplete penetrance and age dependence. CTS therefore represents a neurobiologic marker for the increased risk of developing BECTS. Benign neonatal familial convulsions (BNFC) like BECTS is an idiopathic age-dependent epilepsy with a benign course. Observations of benign neonatal seizures and BECTS in the same individual are well documented. Neonatal seizures with benign course were found in increased numbers in a series of CTS carriers. Two genetic loci, EBNl and EBN2, have been mapped in families with BNFC, making these two loci strong candidates for the CTS trait underlying BECTS. The aim of this study was to determine whether these two epilepsy syndromes are allelic disorders.Methods: Linkage analysis was performed in 12 families with probands with BECTS and one or more relatives with CTS in the EEG with or without BECTS by using polymorphic DNA markers.Results: Assuming an autosomal mode of inheritance with penetrances of 0.9 and 0.45, respectively, both loci were consistently excluded.Conclusions: The CTS trait and EBNl and EBN2 segregate independently. BECTS and BNFC therefore appear to be genetically distinct entities. Benign neonatal seizures may be a underrecognized symptom of the CTS trait itself. Key Words: B ECTS-BNFC-EBN 1 -EB N2.Benign childhood epilepsy with centrotemporal spikes (BECTS) belongs to the idiopathic, localization-related epilepsies (1). It accounts for 15-20% of childhood epilepsies and is characterized by mostly nocturnal, orofacial, simple partial seizures with frequent secondary generalization (for review, see 2,3). The epilepsy resolves after puberty and leaves the affected children mentally unimpaired. Other childhood epilepsies [e.g., the Landau-Kleffner syndrome and electrical status epilepticus during sleep (ESES)] show mayor similarities (4-6; for review, see 7). An etiologic connection seems likely but awaits further appraisal.In BECTS the interictal EEG shows very characteris-

We report two new patients with tetrahydrobiopterin (BH4)-responsive phenylketonuria and compare their phenylalanine hydroxylase (PAH) genotypes (A395P/ IVS12+g>a and R261Q/165T, respectively) to those of previous cases from the literature. These case observations confirm earlier reports stating that BH4-responsive patients are frequently carriers of a missense mutation within the DNA region coding for the catalytic domain of the enzyme. Interestingly, many of the PAH gene mutations detected in BH4-responsive patients have been associated with an inconsistent phenotype in the past. Our case reports confirm that it is necessary to thoroughly examine individuals with increased phenylalanine levels, not only to detect BH4 deficiency, but also to identify patients with PAH deficiency who may benefit from BH4 treatment. In both of our patients, however, an effect of BH4 (7.5 mg/kg) on plasma phenylalanine levels was not seen in the newborn period. We therefore conclude that a normal neonatal BH4 test does not necessarily exclude BH4 responsiveness in all such patients.

Varicella-zoster virus (VZV) infection is immunocompromised patients may cause life-threatening complications. Prevention measures include administration of VZV immuloglobulin, acyclovir and live attenuated varicella vaccine. After vaccination, a mild varicella-like exanthem appears in up to 5% of vaccinees. Morphologically this exanthem cannot be differentiated from wild-type (wt) varicella. The risk of virus transmission after varicella vaccination, in contrast to wt varicella, is low, even in immunocompromised patients. We report on a 2-year-old girl with relapse of cereral anaplastic ependymoma, who received one dose of varicella vaccine. Two weeks later, a maculopapular rash developed while she was an inpatient on the oncology ward. Using VZV-specific PCR and restriction fragment length polymorphism (RFLP) analysis, we were able to diagnose wt varicella infection. Thus, appropriate prevention measures (VZV immunoglobulin and acyclovir) were justified for close contacts to prevent virus transmission. No secondary cases occurred.