1/14. Epileptic negative myoclonus induced by carbamazepine in a child with BECTS. Benign childhood epilepsy with centrotemporal spikes.A 7-year-old female with benign childhood epilepsy with centrotemporal spikes developed epileptic negative myoclonus (ENM) seizures during carbamazepine (CBZ) treatment. She had experienced nocturnal partial seizures since 5 years of age. Interictal electroencephalography demonstrated typical rolandic discharges. Valproate was first initiated at 6 years of age, but the seizures were uncontrollable. carbamazepine was added and valproate withdrawn. The frequency of partial seizures did not decrease. Moreover, she had brief episodes of tone loss in each or both arms and eye blinking several weeks after CBZ introduction. Unilateral loss of arm tone corresponded to spike-and-wave discharges in the contralateral centrotemporal region, and a loss of tone in arms was associated with bilateral synchronous discharges. eye blinking was also related to bilateral synchronous discharges and classified as a myoclonic seizure. The ENM and myoclonic seizures disappeared soon after CBZ withdrawal. Therefore the authors concluded that CBZ induced the ENM and myoclonic seizures in this patient. CBZ sometimes induces generalized seizures in the treatment of partial epilepsy and generalized epilepsy. CBZ-induced ENM seizures should be considered when a brief lapse of tone appears during CBZ treatment.- - - - - - - - - - ranking = 1keywords = seizure (Clic here for more details about this article) |
2/14. Benign partial epilepsy in infancy and early childhood with vertex spikes and waves during sleep: a new epileptic form.International epilepsy classification includes different epileptic syndromes with favourable outcomes in paediatric age, both partial and generalised. This is true in childhood while no partial benign forms are accepted in infancy. In 1987, Watanabe first described a new entity and he defined it as 'benign complex partial epilepsies in infancy'. In 1992, Vigevano referred similar but familial cases whose seizures had secondary generalisation. Both these forms had no interictal EEG abnormalities neither awake nor during sleep. This article presents a survey of 12 cases of partial epilepsy with favourable outcome differing from Watanabe and Vigevano's cases, both for the presence of interictal EEG abnormalities only during sleep and for seizure picture. All our patients are neurologically and neuroradiologically normal. Psychomotor development is unremarkable. Age onset range is 13-30 months. All cases present characteristic spikes and waves during slow-sleep in vertex cerebral areas. Awake EEG is always normal, at follow-up too. Our cases have such homogeneous electroclinical features as to hypothesise a new partial idiopathic epileptic syndrome with favourable outcome in infancy and early childhood. We propose to define it as 'benign partial epilepsy in infancy and early childhood with vertex spikes and waves' (BVSE).- - - - - - - - - - ranking = 0.22222222222222keywords = seizure (Clic here for more details about this article) |
3/14. A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family.Benign familial neonatal convulsions (BFNC) are one of the rare idiopathic epilepsies with autosomal dominant mode of inheritance. Two voltage-gated potassium channels, KCNQ2 on chromosome 20q13.3 and KCNQ3 on 8q24, have been recently identified as the genes responsible for BFNC. Here we describe a large family with BFNC in which we found a previously undescribed mutation in the KCNQ2 gene. A 1187( 2)T/G nucleotide exchange affects the conserved donor splice site motif in intron 9. This mutation can be predicted to give rise to aberrant splicing of the primary transcript. There was a wide range of clinical manifestations in this family. An unusual clinical feature is the occurrence of partial seizures in later life with corresponding focal neurological deficits.- - - - - - - - - - ranking = 2.8853042646168keywords = convulsion, seizure (Clic here for more details about this article) |
4/14. Migrating partial seizures in infancy: two new cases.Two infants presented at 3 weeks and 3 months of age with intractable partial seizures. Extensive investigations failed to identify an underlying cause. There was no response to antiepileptic drug therapy and no developmental progress following the onset of the seizures. In both infants there was a distinctive pattern of seizures that arose independently from multiple regions of both hemispheres. Interictal electroencephalograms revealed multifocal epileptiform activity. The infants died aged 9 and 12 months. One underwent postmortem examination, which was normal with no hippocampal sclerosis. These infants fulfill the diagnostic criteria of the syndrome of migrating partial seizures in infancy described by Coppola and colleagues in 1995.- - - - - - - - - - ranking = 0.88888888888889keywords = seizure (Clic here for more details about this article) |
5/14. myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K channel.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 in life by myokymia, involuntary contractions of skeletal muscles. All affected members of the myokymia/BFNC family carried a mutation (R207W) that neutralized a charged amino acid in the S4 voltage-sensor segment of KCNQ2. This substitution led to a shift of voltage-dependent activation of KCNQ2 and a dramatic slowing of activation upon depolarization. myokymia is thought to result from hyperexcitability of the lower motoneuron, and indeed both KCNQ2 and KCNQ3 mRNAs were detected in the anterior horn of the spinal cord where the cells of the lower motoneurons arise. We propose that a difference in firing patterns between motoneurons and central neurons, combined with the drastically slowed voltage activation of the R207W mutant, explains why this particular KCNQ2 mutant causes myokymia in addition to BFNC.- - - - - - - - - - ranking = 0.55483863070114keywords = convulsion (Clic here for more details about this article) |
6/14. Ictal and interictal single photon emission computed tomography in a patient with benign familial infantile convulsions.Ictal and interictal single photon emission computed tomography (SPECT) and ictal electroencephalography (EEG) were studied in a 3-month-old girl with benign familial infantile convulsions (BFIC) to reveal the epileptic focus. There was bilateral diffuse propagation from a left frontal lobe focus on the ictal EEG. perfusion in the left frontal region was increased on ictal SPECT and decreased on interictal SPECT. Epileptic foci of BFIC showed the same characteristics as foci of symptomatic partial epilepsy.- - - - - - - - - - ranking = 2.7741931535057keywords = convulsion (Clic here for more details about this article) |
7/14. Epileptic falls and gait disturbance in two young children with a sharp wave focus at the vertex: a variant of benign partial epilepsy of childhood?We describe two young children who presented with frequent falls and myoclonic jerks affecting the trunk and legs associated with a sharp and slow wave epileptic focus at the vertex. The initial neurological examination and brain magnetic resonance imaging were normal. Both patients had a persistent gait dysfunction, sometimes asymmetrical, fluctuating with the intensity of the epilepsy and the electroencephalogram abnormalities. The localization of the epileptic focus at the vertex, corresponding to the motor control of the legs and trunk, can explain this peculiar semiology. The seizures were difficult to treat, but one patient is currently in remission. Although epileptic falls are most often a feature of severe epilepsies of childhood, we think that these two patients present a variant of benign partial epilepsy of childhood.- - - - - - - - - - ranking = 0.11111111111111keywords = seizure (Clic here for more details about this article) |
8/14. Persistent hyperinsulinemic hypoglycaemia followed as benign infantile convulsion.An 18-month-old boy developed seizures at 3 months of age. He developed normally and, his EEG and brain CT revealed no abnormal findings. The blood sugar level was normal at that time, thus he was diagnosed as having benign infantile convulsion. At 7 months of age seizures reappeared, and hypoglycaemia associated with hyperinsulinism was observed during the seizures. With conservative therapy his blood sugar level was well controlled and he had no further seizures. Hypoglycaemic seizures are sometimes misdiagnosed as epilepsy. We have to pay attention to hyperinsulinemic hypoglycaemia when we see seizures with normal EEG even in infants.- - - - - - - - - - ranking = 3.4408598201724keywords = convulsion, seizure (Clic here for more details about this article) |
9/14. Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.Mutations in the voltage gated K( )-channel gene KCNQ2 are known to cause benign familial neonatal convulsions (BFNC), which are characterized by a benign course, spontaneous remission and normal psychomotor development. Most KCNQ2 mutations can be predicted to truncate the protein. Only a few amino acid exchanges have been found, and their localization was restricted to either the pore region or the fourth or sixth transmembrane region (TM). We have now identified the first KCNQ2 mutation located within TM5, affecting a highly conserved serine in amino acid position 247 of the predicted protein. The clinical history of the two affected family members is not compatible with typical BFNC. The poor outcome in the index patient raises the question if at least some KCNQ2 mutations might increase the risk to develop therapy-resistant epilepsy. Additional studies are needed to evaluate the possibility of a causal relationship between KCNQ2 mutations and severe early infantile epilepsy.- - - - - - - - - - ranking = 2.7741931535057keywords = convulsion (Clic here for more details about this article) |
10/14. A novel KCNQ2 K channel mutation in benign neonatal convulsions and centrotemporal spikes.patients with benign familial neonatal convulsions (BFNC) may develop various epilepsies or epilepsy-associated EEG traits. A heterozygous 1-base pair deletion (2043DeltaT) in the KCNQ2 gene encoding for K channel subunits was found in a patient with BFNC who showed centrotemporal spikes at age 3 years. Electrophysiologic studies showed that mutant K channel subunits failed to give rise to functional homomeric channels or exert dominant-negative effects when expressed with KCNQ2/KCNQ3 subunits.- - - - - - - - - - ranking = 2.7741931535057keywords = convulsion (Clic here for more details about this article) |
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