Günter Krämer

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PURPOSE Epilepsies have a highly heterogeneous background with a strong genetic contribution. The variety of unspecific and overlapping syndromic and nonsyndromic phenotypes often hampers a clear clinical diagnosis and prevents straightforward genetic testing. Knowing the genetic basis of a patient's epilepsy can be valuable not only for diagnosis but also(More)
The pharmacokinetics and bioavailability of methylphenidate (MPH) and a metabolite, ritalinic acid (RA), were studied in normal adults, children with hyperactivity, monkeys and rats. Adult males received 0.15 or 0.3 mg/kg of MPH orally and MPH and RA were analyzed in plasma samples obtained at various times after treatment. Maximal MPH concentrations in(More)
Deletions at 16p13.11 are associated with schizophrenia, mental retardation, and most recently idiopathic generalized epilepsy. To evaluate the role of 16p13.11 deletions, as well as other structural variation, in epilepsy disorders, we used genome-wide screens to identify copy number variation in 3812 patients with a diverse spectrum of epilepsy syndromes(More)
PURPOSE Although memory, language, and executive functions have been extensively studied in patients with mesial temporal lobe epilepsy (MTLE), investigations into advanced social cognitive abilities have been neglected. In the present study, we investigated the ability to detect social faux pas and studied possible mediating clinical and demographic(More)
OBJECTIVE To describe the phenotypic spectrum and genetics of periventricular nodular heterotopia (PNH) caused by FLN1 mutations in four men. BACKGROUND X-linked PNH caused by FLN1 mutations (MIM #300049) implies prenatal or early postnatal lethality in boys and 50% recurrence risk in daughters of affected women. METHODS Clinical examination, cognitive(More)
Specific interictal personality characteristics in epilepsy, sometimes referred to as "Waxman-Geschwind Syndrome", have been recognized for centuries and extensively described. Despite the persevering clinical impression that patients with mesial temporal lobe epilepsies (MTLE) suffer from problems in communication and interpersonal relations, uncertainties(More)
The aim of the present review is to discuss the potential value of therapeutic drug monitoring (TDM) of the newer antiepileptic drugs (AEDs) felbamate, gabapentin, lamotrigine, levetiracetam, oxcarbazepine, tiagabine, topiramate, vigabatrin, and zonisamide. Studies of the relationship between serum concentrations and clinical efficacy of these drugs are(More)
Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of severe epilepsies accompanied by intellectual disability and other neurodevelopmental features. Using next-generation sequencing, we identified four different de novo mutations in KCNA2, encoding the potassium channel KV1.2, in six isolated patients with epileptic(More)
The majority of patients with epilepsy become seizure-free with antiepileptic drug therapy. However, seizures in approximately one-third of patients with epilepsy are difficult to treat with antiepileptic drugs and require high doses or polytherapy. High dosages increase the risk of cognitive side effects. We retrospectively investigated 162 patients with(More)
Partial epilepsies have a substantial heritability. However, the actual genetic causes are largely unknown. In contrast to many other common diseases for which genetic association-studies have successfully revealed common variants associated with disease risk, the role of common variation in partial epilepsies has not yet been explored in a well-powered(More)