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BACKGROUND Mutations in the TUBA1A gene have been reported in patients with lissencephaly and perisylvian pachygyria. METHODS Twenty-five patients with malformations of cortical development ranging from lissencephaly to polymicrogyria were screened for mutations in TUBA1A. RESULTS Two novel heterozygous missense mutations in TUBA1A were identified:(More)
Over the past decades, it has become clear that the most efficient way to prevent status epilepticus is to stop the seizure as fast as possible, and early treatment of prolonged convulsive seizures has become an integral part of the overall treatment strategy in epilepsy. Benzodiazepines are the first choice drugs to be used as emergency medication. This(More)
INTRODUCTION Vagus nerve stimulation (VNS) is a symptomatic add-on treatment for patients with medically refractory epilepsy. It consists of continuous electrical stimulation of the left vagus nerve by means of a helical electrode and an implantable, programmable pulse generator. Currently, over 50,000 patients are treated with VNS worldwide. AIM This(More)
Topiramate (TPM) is a new anti-epileptic drug with proven efficacy against partial seizures in adults. Its use in children is less well documented. In a retrospective study, 41 patients with intractable childhood epilepsy were treated with TPM as add-on therapy for an average period of 15 months. They were classified according to seizure type and etiology.(More)
Steroids and adrenocorticotrophic hormone (ACTH) have been used for the treatment of infantile spasms for several years. However, the use of steroids in the treatment of epilepsy beyond infantile spasms has been limited to only a few studies. We report the experience with steroids in 32 children with intractable epilepsy, not including West syndrome. In 47%(More)
We report on the long-term follow-up of a patient with refractory non-convulsive SE who was successfully treated with VNS. A 7-year old girl with a medical history of thrombosis in the right internal cerebral vein and right thalamic bleeding 8 days after birth, developed epilepsy at the age of 13 months. At the age of 6 she presented with a refractory(More)
OBJECTIVE To report on the molecular identification of a novel heteroplasmic G-to-A transition at mitochondrial DNA position 3249 in transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. PATIENT AND METHODS A 34-year-old patient had been suffering for more than 10 years from progressive visual failure,(More)
In recent years, different research lines have examined the epileptogenic process in order to understand the different stages in this process, and with the hope that early recognition and intervention could prevent chronic epilepsy in patients with epileptic seizures. In animals, acquired epilepsy is studied most commonly with kindling models, status(More)
Anti-NMDA-receptor encephalitis was initially described as a paraneoplastic disorder in young women with ovarian teratoma. We report on a 3-year-old boy who developed anti-NMDA-receptor encephalitis one month after a respiratory infection. Moreover, array-comparative genomic hybridization in this patient revealed an inherited microdeletion in chromosomeband(More)
Congenital bilateral perisylvian polymicrogyria (CBPP) is the most frequent type of polymicrogyria in children. A 3-month-old male patient is described here with the combination of CBPP, infantile spasms and arthrogryposis. Only four patients have been reported earlier in the literature with this combination. Three of them had epilepsy. These patients(More)