O. Cokar, P. Gelisse, M.-O. Livet, M. Bureau, M. Habib, P. Genton
Conspicuous startle reactions were easily reproduced under EEG and video monitoring: the interictal EEG was normal, the ictal recordings doubtful; clinically, the startle reaction was asymmetric, with elevation of the left limbs. The diagnosis of hyperekplexia and startle epilepsy were discussed. We learned that she had been evaluated at age 3-4 months for spontaneous, generalised tonic-clonic seizures and "infantile spasms", in fact for early-onset startle reactions triggered by noise or contact, in association with prominent EEG changes. A full remission had been achieved under ACTH therapy, but the startle reactions had reappeared at around age six. The patient was successfully treated with carbamazepine. The history, clinical and neurophysiological data led us to discuss the diagnosis of hyperekplexia and startle epilepsy. We concluded that the patient had an unusual form of cryptogenic focal epilepsy originating from the supplementary motor area, presenting as strictly stimulus-triggered "flash" seizures.The startle reaction following an unexpected stimulus is a physiological response. A stereotyped motor pattern consists of a brief flexion response, most marked in the upper half of the body with facial grimacing, head movement, elevation of the shoulders, abduction of the upper arms and flexion of the elbows, trunk and knees. This response is heightened by anxiety, fatigue or following sleep deprivation and can reach such a degree in frequency and intensity or become so extensive in distribution that it can become pathological [1-3]. Excessive startle responses are described as epileptic and non-epileptic attacks. When faced with a striking startle reaction, the clinician may wonder whether its nature is epileptic or not: a precise diagnosis may have therapeutic consequences, and is not always easy. The purpose of this paper is to report a young woman who presented with an excessive startle response, in order to discuss the elements of diagnosis.
R. Wiest, K. Schindler, M. Kollar, F. Donati
partial seizures with occasional secondary generalisation. Phenytoin as monotherapy and in combination with valproate had not been effective. During video-EEG we recorded typical absences with brief 3 second spike, and slow-wave discharges of up to 5 seconds, which were recognized by the patient herself. All absences were preceded by epigastric sensations. There was no indication of focal epilepsy. Monotherapy with valproate substantially decreased the frequency of the absences. In conclusion, this case is peculiar for several reasons: 1) late onset of absence epilepsy, 2) epigastric sensation at onset of absence seizures, 3) recognition of brief "phantom" absences and 4) presumable adverse effects of phenytoin.Epigastric auras, impaired consciousness and automatisms are typical symptoms of temporal lobe epilepsy . We present the unusual clinical course, EEG and video recording of a 39-year-old woman with late onset absence epilepsy. The absences manifested with epigastric sensations and hand automatisms and were misdiagnosed as temporal lobe epilepsy.
A. Ikeda, R. Matsumoto, S. Ohara, T. Kunieda, Y. Shirakashi, R. Kaji, H. Fukuyama, H. Shibasaki
seizures generated by the supplementary motor area (SMA), in patients with bilateral parietal lesions.
We describe 2 patients (age 24 and 32 years), with bilateral parietal lesions. Clinically, seizures were preceded by lightning sensation in the body, followed by asymmetric tonic posturing of both hands and thrashing movements of the feet, lasting for less than 1 min.
Ictal rhythmic (7-15 Hz) activity at the vertex was observed on the EEG in 1 patient. Interictal SPECT in 2 patients showed decreased blood flow in both parietal areas, consistent with bilateral parietal abnormalities on T2- and T1-weighted MRIs. Ictal SPECT in 1 patient showed increased blood flow in the right parietal and frontopolar areas.
The present 2 patients had clinically asymmetric tonic seizures, most likely resulting from spreading of the ictal activity from the parietal lesions via the superior longitudinal fasciculus to the SMA. Bilateral, homologous lesions in the parietal area might cause disinhibition on the unilateral epileptogenic side.
Tonic seizures belong to generalized seizures in the ILAE seizure classification of 1981 , but clinically tonic seizures involving bilateral body parts are also seen in frontal lobe epilepsy, in which either asymmetric body involvement or focal EEG pattern can correctly lead us to a diagnosis of focal (frontal) epilepsy rather than generalized epilepsy . The supplementary motor area (SMA) is one of the eloquent frontal areas which provokes asymmetric tonic posturing involving mainly the proximal parts of the extremities and trunk, and speech arrest and vocalization appear without loss of awareness . We recently saw two patients whose seizure semiology was essentially consistent with SMA seizures, but both patients had bilateral parietal to parieto-occipital lesions, associated with other common clinical features. We hypothesize that the bilateral homologous parietal lesions may cause disinhibition of ictal activity, which can easily spread into the frontal lobe, generating seizures of frontal lobe origin as the symptomatogenic zone, distant from the epileptogenic zone.
B. Bilgiç, B. Baykan, C. Gürses, A. Gökyigit
frequent episodes of typical absence status epilepticus (ASE) lasting 1-2 hours with marked perioral myoclonia and moderate confusion. Initial therapy with carbamazepine was substituted by valproate because of worsening of the absence seizures. At the age of 17, the patient was admitted to our clinic with his usual, but long lasting ASE attack, accompanied by 2 generalized tonic-clonic convulsions. ASE was confirmed with the EEG which showed continuous 3 Hz spike and wave paroxysms with occasional normal intervals of 1-5 seconds. IV injection of clonazepam improved the clinical and EEG findings immediately. Video- EEG examination performed after a few weeks demonstrated typical absence seizures with perioral myoclonia. Based on the characteristics of seizure semiology, other clinical data and EEG findings, the patient was diagnosed as having the syndrome of "perioral myoclonia with absence seizures" described by Panayiotopoulos.
P. Veggiotti, S. Cardinali, E. Montalenti, A. Gatti, G. Lanzi
members of large pedigree studies. The syndrome spectrum has been widened by including others forms of generalized epilepsy. We report two Italian families in which the fathers showed febrile seizure plus (FS+), and two sons had severe myoclonic epilepsy of infancy (SMEI). The clinical setting of each epileptic member of the family will be discussed, focusing on the relationship with the GEFS+ group, confirming its wide clinical spectrum. In fact, GEFS+ is different from most other epilepsy syndromes as it is defined not by a set of associated symptoms but by the genetic transmission of a predisposition to febrile convulsions and other seizures, with a variable expression in several members of the same pedigree, perhaps due to ionic channel dysfunction. SMEI could represent the most severe end of the spectrum.Scheffer et al.  in 1997 described a genetic epilepsy syndrome termed generalized epilepsy with febrile seizures plus (GEFS+).
This syndrome is characterized by a wide spectrum of clinical phenotypes including: febrile seizures (FS), febrile seizures plus (FS+), FS+ with other seizure types (absences, myoclonic or atonic seizures) and myoclonic-astatic epilepsy.
The most common phenotype, denoted as "febrile seizures plus" (FS+), comprises multiple febrile seizures that, unlike in the typical febrile convulsions syndrome, continue to beyond the age of 6 years and are often associated with the occurrence of afebrile tonic-clonic seizures .
In 1999 Singh et al.  studied 8 cases of severe myoclonic epilepsy of infancy (SMEI). In 6 out of 8 families, a history of seizures with phenotypes consistent with the GEFS+ spectrum were present. This finding suggests that SMEI could be the severe end of the GEFS + spectrum.
We report two Italian families in which two brothers have SMEI, and other family members show other paroxysmal features consistent with the FS+ phenotype.
C. Gire, H. Somma-Mauvais, C. Niçaise, M. Roussel, J.-M. Garnier, G. Farnarier
normal. Sharp waves from the left occipital lobe characterised the interictal EEG. Ictal video-EEG showed the aspects of electric seizures during clinical manifestations e.g. nystagmus. Ambulatory EEG displayed numerous diurnal and nocturnal seizures, but exclusively in REM sleep.
After two weeks of sodium valproate treatment, the seizures, EEG focus spikes and nystagmus, as well as the squint, disappeared. During a two-year follow-up the child had no further seizures, EEG was normal and the school performance was unaffected.
This case has the main features of benign epilepsy, although there are unusual features such as epileptic nystagmus, permanent squint, reduction of EEG paroxysmal abnormalities during NREM, and the presence of seizures during REM sleep. The observation and the significance of EN are discussed with reference to the literature.
K.J. Oostrom, A. Schouten, C.L.J.J. Kruitwagen, A.C.B. Peters, A. Jennekens-Schinkel
extensively used research tools to assess behavioural problems in paediatric populations, including children with epilepsy. When applied to children with epilepsy, items like "staring blankly" or "twitching" can be rated on the basis of seizure features rather than behaviour and, hence, render behavioural scores ambiguous.
The aims were detection, and evaluation of the impact, of CBCL and TRF items eliciting ambiguity when applied to children with "epilepsy only" (idiopathic or cryptogenic epilepsy, attending normal schools).
Experts identified items that give rise to interpretational ambiguity of the ratings in epilepsy. By treating ratings on these items as missing values, their effect was evaluated in CBCL and TRF scores of 59 schoolchildren with "epilepsy only" and age and gender matched healthy classmates.
Seven items of the CBCL gave rise to ambiguity of which items 5 co-occur on the TRF. Rescoring reduced psychopathology scores in children with "epilepsy only", but not in those of healthy children: the percentage of patients trespassing the clinical cut off score, on at least one of the subscales, reduced from 46 to 23% on the CBCL and from 18 to 15% on the TRF.
Parents and teachers run the risk of confusing behaviour and seizure features when filling out the CBCL and TRF. In "epilepsy only", prevalence estimates of psychopathology based on the CBCL and TRF, should be considered with some reserve.