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Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation

T. Ohashi, et al.

Volume 16, Number 2, June 2014

Keywords : Genetic Disorder, Nonepileptic paroxysmal event, Not applicable, Epileptic encephalopathy not otherwise classified

with hand stereotypies. The patient initially developed focal seizures with multiple foci at 3 months of age. Thereafter, the seizures evolved to frequent episodes of hyperthermia-induced status epilepticus. A novel de novo SCN1A mutation was identified by whole-exome sequence analysis. This case demonstrates that SCN1A mutations may cause movement disorders as an atypical phenotype and the case history of this patient may expand our understanding of the clinical spectrum of SCN1A-associated epileptic encephalopathy. [ Published with video sequences]

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Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation

T. Ohashi, et al.

Volume 16, Number 2, June 2014

Keywords : Genetic Disorder, Nonepileptic paroxysmal event, Not applicable, Epileptic encephalopathy not otherwise classified

with hand stereotypies. The patient initially developed focal seizures with multiple foci at 3 months of age. Thereafter, the seizures evolved to frequent episodes of hyperthermia-induced status epilepticus. A novel de novo SCN1A mutation was identified by whole-exome sequence analysis. This case demonstrates that SCN1A mutations may cause movement disorders as an atypical phenotype and the case history of this patient may expand our understanding of the clinical spectrum of SCN1A-associated epileptic encephalopathy. [ Published with video sequences]

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Peri-ictal headache due to epileptiform activity in a disconnected hemisphere

R. Vydrova, et al.

Volume 16, Number 1, March 2014

Keywords : Dysplasia (architectural), Headache, Hemispheric, Focal non-idiopathic (localization not specified)

surgery. EEG showed persistent abundant epileptiform activity over the left (disconnected) hemisphere, including ictal patterns that neither generalised nor had clinical correlates. Antiepileptic medication was completely withdrawn four years following the surgery. One week after the withdrawal, she developed episodes of intense left-sided hemicranias (ipsilateral to the surgery) with vomiting and photophobia that did not resemble her habitual seizures and were unresponsive to non-steroidal anti-inflammatory drugs. Video-EEG showed association of the headache attacks with ictal patterns over the disconnected hemisphere. Brain MRI revealed increased signal changes in the left hemisphere. Attacks responded promptly to i.v. midazolam and carbamazepine at a low dose. Mechanisms underlying peri-ictal headache originating in the disconnected hemisphere are discussed. [ Published with video sequences]

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Side-to-side axial movements

S. Franca, et al.

Volume 16, Number 1, March 2014

Keywords : Not applicable, Tonic-clonic seizure, side-to-side axial movement, Not applicable, Not applicable

Methods. We retrospectively studied 86 GTCS, 13 primary and 73 secondary, in 58 patients who underwent video-EEG (vEEG) evaluation in our epilepsy monitoring unit. Eleven patients had generalised epilepsy and 47 focal epilepsy. Two expert epileptologists, blinded to diagnosis, examined the vEEGs independently for the presence of five semiological signs. Results. Asymmetry of limb movements in clonic phase, side-to-side axial movements, and asymmetric seizure termination occurred more frequently ( p<0.05) in secondary GTCS compared to primary GTCS. Combining asymmetry of limb movements in clonic phase and side-to-side axial movements provided the greatest value in differentiating secondary GTCS from primary GTCS. Conclusion. Careful examination of GTCS seizure semiology can help differentiate primary from secondary GTCS. The semiological sign of side-to-side axial movements, which has not previously been studied in this context, may add to existing literature of semiological signs and be of value for the evaluation of surgical patients in the epilepsy monitoring unit. In the out-patient setting, a clear history of these signs may help guide drug treatment choices. [ Published with video sequences].

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Side-to-side axial movements

S. Franca, et al.

Volume 16, Number 1, March 2014

Keywords : Not applicable, Tonic-clonic seizure, side-to-side axial movement, Not applicable, Not applicable

Methods. We retrospectively studied 86 GTCS, 13 primary and 73 secondary, in 58 patients who underwent video-EEG (vEEG) evaluation in our epilepsy monitoring unit. Eleven patients had generalised epilepsy and 47 focal epilepsy. Two expert epileptologists, blinded to diagnosis, examined the vEEGs independently for the presence of five semiological signs. Results. Asymmetry of limb movements in clonic phase, side-to-side axial movements, and asymmetric seizure termination occurred more frequently ( p<0.05) in secondary GTCS compared to primary GTCS. Combining asymmetry of limb movements in clonic phase and side-to-side axial movements provided the greatest value in differentiating secondary GTCS from primary GTCS. Conclusion. Careful examination of GTCS seizure semiology can help differentiate primary from secondary GTCS. The semiological sign of side-to-side axial movements, which has not previously been studied in this context, may add to existing literature of semiological signs and be of value for the evaluation of surgical patients in the epilepsy monitoring unit. In the out-patient setting, a clear history of these signs may help guide drug treatment choices. [ Published with video sequences].

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Side-to-side axial movements

S. Franca, et al.

Volume 16, Number 1, March 2014

Keywords : Not applicable, Tonic-clonic seizure, side-to-side axial movement, Not applicable, Not applicable

Methods. We retrospectively studied 86 GTCS, 13 primary and 73 secondary, in 58 patients who underwent video-EEG (vEEG) evaluation in our epilepsy monitoring unit. Eleven patients had generalised epilepsy and 47 focal epilepsy. Two expert epileptologists, blinded to diagnosis, examined the vEEGs independently for the presence of five semiological signs. Results. Asymmetry of limb movements in clonic phase, side-to-side axial movements, and asymmetric seizure termination occurred more frequently ( p<0.05) in secondary GTCS compared to primary GTCS. Combining asymmetry of limb movements in clonic phase and side-to-side axial movements provided the greatest value in differentiating secondary GTCS from primary GTCS. Conclusion. Careful examination of GTCS seizure semiology can help differentiate primary from secondary GTCS. The semiological sign of side-to-side axial movements, which has not previously been studied in this context, may add to existing literature of semiological signs and be of value for the evaluation of surgical patients in the epilepsy monitoring unit. In the out-patient setting, a clear history of these signs may help guide drug treatment choices. [ Published with video sequences].

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Self-induction seizures in sunflower epilepsy: a video-EEG report

V. Belcastro, et al.

Volume 16, Number 1, March 2014

Keywords : Genetic predisposition, Absence (dialeptic) seizure, Not applicable, Idiopathic generalized not specified

and self-induction is a mode of seizure precipitation employed by either intellectually disabled or healthy photosensitive individuals. Absences and myoclonic jerks are the most common seizure types in self-induction. We report on a girl with normal intelligence who self-induced seizures by waving her outspread fingers in front of a bright light. This situation is called sunflower epilepsy. [ Published with video sequences]

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