Summary:Purpose: Benign neonatal familial convulsions (BNFCs) represent a rare epileptic disorder with autosomal dominant mode of inheritance. To date, two voltage-gated potassium (K + ) channel genes, KCNQ2 and KCNQ3, have been identified in typical BNFC families. The study of new pedigrees may help detect new mutations and define genotype-phenotype correlations.Methods: A large Czech family was detected in which BNFC was inherited together with a broad range of various nonneonatal epileptic phenotypes. Genetic linkage study and direct mutation analysis were performed to find the disease-causing mutation.Results: In seven patients with BNFCs and no recurrence of seizures, a novel two-base-pair deletion (1369del2) was identi-
The primary aim of this study was to establish the incidence and the lateralizing value of 'lateralized ictal immobility of the upper limb' (LIL) in patients suffering from temporal lobe epilepsy (TLE), and to describe the connection between LIL and other clinical ictal signs. We retrospectively reviewed video records of 87 patients with TLE. We reviewed a total of 276 focal epileptic seizures with or without secondary generalization. We studied the incidence of LIL, its lateralizing value, and its relationship to other ictal clinical signs. Of the 87 patients, 49 had undergone a successful resective surgery at least 1 year prior to the study. LIL is a late sign in the course of partial seizure. It occurred in 25 of our 87 patients (28.7%), and in 47 of 276 seizures (17.1%). In all of the evaluated seizures, LIL occurred contralateral to the side of seizure onset (P < 0.001). LIL was always associated with ipsilateral upper limb automatisms, and in 63.1% of the occurrences, it was immediately followed by ictal dystonia. LIL is a more accurate term to describe what has previously been called 'ictal paresis' in the literature. Due to the inability to execute proper testing during a partial seizure, it is better to use the term LIL when making a visual analysis of a seizure. LIL is a more suitable term to describe the studied ictal sign. It is a relatively frequent sign in patients with TLE. LIL has an excellent lateralizing value for the contralateral hemisphere. It is a negative motor sign, and its genesis is probably associated with the epileptic involvement of the contralateral frontal lobe.
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