Robert Kuba, Ivana Tyrlíková, Milan Brázdil, Ivan Rektor
(76 males, 66 females) with temporal lobe epilepsy, aged from 19 to 58 years with an average age of 33.1 ± 8.7 years. Overall, 454 seizures were analysed. The seizure onset zone was mesial in 112 patients (78.8%), and “non-mesial” in 30 patients (21.2%).ResultsIctal dystonia was present in 68 of the 142 patients (47.9%), and in 186 of 454 total seizures (40.9%). Upper limb dystonia was present in 94 sizures (50.5%) of 32 patients; hemidystonia in 84 seizures (45.2%) of 30 patients; and lower limb dystonia in eight seizures (4.3%) of six patients. For all cases, all types of ictal dystonia were contralateral to the seizure onset zone. Ictal dystonia was significantly more frequent in patients with a mesial seizure onset zone than in “non-mesial” patients (58.1% vs 7.7%; p < 0.001). Within the mesial group, ictal dystonia was significantly more frequent in patients with hippocampal sclerosis than in those patients with other lesions (66.1% vs 41.1%; p = 0.023).ConclusionIctal dystonia in temporal lobe epilepsy is a reliable lateralizing ictal sign. During almost half of the seizures studied, ictal dystonia was present in the form of hemidystonia, and isolated involvement of the lower limbs also occured. Combined data obtained from both noninvasive and invasive EEG showed that ictal dystonia tended to occur more often in mesial onset temporal lobe epilepsy, especially when hippocampal sclerosis was the epileptogenic lesion.
Dimitar N Azmanov, Sashka Zhelyazkova, Petya S Dimova, Melania Radionova, Veneta Bojinova, Laura Florez, Shelagh J Smith, Ivailo Tournev, Assen Jablensky, John Mulley, Ingrid Scheffer, Luba Kalaydjieva, Josemir W Sander
plus (GEFS+). While most Dravet syndrome cases are caused by de novo mutations, 5% inherit a mutation from a mildly affected or symptom-free parent. Parental mosaicism has been identified, with documented cases involving truncating mutations or gene rearrangements. We describe a Roma/Gypsy family, where a missense mutation in SCN1A, p.D194N, is transmitted from a mosaic GEFS+ father to a child with Dravet syndrome. Mosaicism may be more common than assumed and should be considered regardless of the nature of the mutation.
Daniela Mölleken, Hertha Richter-Appelt, Stefan Stodieck, Thomas Bengner
epilepsy. SQOL was determined using the Derogatis Interview for Sexual Function - Self Report Inventory (DISF-SR) and personality was studied using the NEO five-factor inventory (NEO-FFI). Lower extraversion and female sex were factors associated with decreased SQOL, accounting for 22% of SQOL variance. Our results suggest that particularly introverted women with epilepsy may have an elevated risk of decreased SQOL.