Hyperkinetic seizures in patients with temporal lobe epilepsy: clinical features and outcome after temporal lobe resection.

PURPOSE: Temporal lobe epilepsy (TLE) is usually associated with automatisms. Hyperkinetic seizures are supposed to be unusual. Because we witnessed several patients with TLE and ictal hyperkinetic symptoms, we retrospectively assessed the number, clinical findings, and seizure outcome in such patients who had undergone temporal lobe resection. METHODS: We reviewed medical history, video-electroencephalography (EEG) recording and neuroimaging of adult patients who underwent epilepsy surgery for TLE at the Kork Epilepsy Center over the last 20 years with a minimum postoperative follow-up of 12 months. KEY FINDINGS: Among 294 patients who were resected exclusively in the temporal region, we identified 17 (6%) who presented with hyperkinetic semiology such as violent vocalization, complex movements of the proximal segments of the limbs, rotation of the trunk, pelvic thrusting, or early tonic or dystonic posturing. Most of the patients had a preceding aura. Ictal EEG activity was located in the corresponding temporal region, usually with a wide distribution over temporal electrodes with fast spread to unilateral frontal electrodes and to the contralateral side. Neuroimaging revealed extended lesions in the temporal lobe involving mesial and neocortical structures. Most of the patients underwent classical anterior temporal lobe resection including amygdalo-hippocampectomy. Fourteen patients (82%) became completely seizure-free (Engel class Ia). Histopathology showed mainly focal cortical dysplasia plus hippocampal sclerosis. SIGNIFICANCE: Hyperkinetic seizure semiology may occasionally occur in patients with TLE and is, therefore, no contradiction to the hypothesis of TLE if scalp EEG patterns and neuroimaging findings correspond. The postoperative seizure outcome is favorable in such patients and not different from outcome data in classical TLE.

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

Warburg Micro Syndrome is a rare, autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. We have found five new mutations in the RAB3GAP1 gene in seven patients with suspected Micro Syndrome from families with Turkish, Palestinian, Danish, and Guatemalan backgrounds. A thorough clinical investigation of the patients has allowed the delineation of symptoms that are consistently present in the patients and may aid the differential diagnosis of Micro Syndrome for patients in the future. All patients had postnatal microcephaly, micropthalmia, microcornia, bilateral congenital cataracts, short palpebral fissures, optic atrophy, severe mental retardation, and congenital hypotonia with subsequent spasticity. Only one patient had microcephaly at birth, highlighting the fact that congenital microcephaly is not a consistent feature of Micro syndrome. Analysis of the brain magnetic resonance imagings (MRIs) revealed a consistent pattern of polymicrogyria in the frontal and parietal lobes, wide sylvian fissures, a thin hypoplastic corpus callosum, and increased subdural spaces. All patients were homozygous for the mutations detected and all mutations were predicted to result in a truncated RAB3GAP1 protein. The analysis of nine polymorphic markers flanking the RAB3GAP1 gene showed that the mutation c.1410C>A (p.Tyr470X), for which a Danish patient was homozygous, occurred on a haplotype that is shared by the unrelated heterozygous parents of the patient. This suggests a possible founder effect for this mutation in the Danish population.

Functional hemispherectomy in adults with intractable epilepsy syndromes: a report of 4 cases.

BACKGROUND: Functional hemispherectomy (FH) is mainly performed in children with catastrophic epilepsies and pre-existing severe hemiparesis. It is accepted that mainly patients at young ages with more or less complete loss of their hand function are suitable candidates for FH. However, we feel that FH should be considered also in some adults with devastating unilateral epilepsy syndromes. PATIENTS AND METHODS: We report four cases of adults who underwent FH because of their intractable epilepsy syndromes. Three of the four patients had reduced but not complete loss of hand function. Careful weighing-up of the risk-benefit ratio still led to the decision to perform FH in order to achieve complete seizure relief. RESULTS: All patients had a surgical outcome of Engel class I; one of them suffered from post-operative psychogenic non-epileptic seizures which were treated successfully by psychotherapy. No clinically relevant complications occurred. CONCLUSION: We wish to point out that FH is a possible surgical option in cases with catastrophic epilepsies in adulthood. Patients and relatives should strongly consider that the likelihood of at least partially, impaired hand function or other surgery-related additional handicaps may be outweighed by the chance of freedom of seizures in a limited number of patients. In all of our cases, patients and relatives agreed that the surgical outcome led to a marked improvement of quality of life and that it had been the right decision to proceed with FH in spite of the expected negative impacts of the operation. Video examples of the pre- and post-surgical hand function of one sample patient are enclosed.