Seizures Provoked by Dressing

Cirignotta, Fabio; Montagna, Pasquale; Lugaresi, E; Gervasio, L

doi:10.1001/archneur.1982.00510240047016

Cited by 3 publications

(1 citation statement)

References 2 publications

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“…Cirignotta et al . first described seizures occurring after diaper changing, but in their case, onset of seizures occurred after the complete dressing process and the authors suggested a triggering mechanism involving the emotional gratification of being completely dressed (Cirignotta et al ., 1982). Even if the triggering mechanism is more complex (involving also emotional factors and probably related to diffuse network hyperexcitability), the hypothesis of a crucial role of somatosensory stimulation of the perianal region has been suggested by other authors (Feyissa et al ., 2016).…”

Section: Discussionmentioning

confidence: 99%

Diaper changing‐induced reflex seizures in CDKL5‐related epilepsy

Solazzi

Fiorini

Parrini

et al. 2018

Epileptic Disorders

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Mutations in the CDKL5 (cyclin-dependent kinase-like-5) gene are known to determine early-onset drug resistant epilepsies and severe cognitive impairment with absent language, hand stereotypies, and deceleration of head growth. Reflex seizures are epileptic events triggered by specific stimuli and diaper changing is a very rare triggering event, previously described in individual cases of both focal and unclassified epilepsy, as well as in Dravet syndrome. Our aim was to describe diaper changinginduced reflex seizures as one of the presenting features in a case of CDKL5-related epilepsy, providing video-EEG documentation and focusing discussion on hyperexcitability determined by the disease. [Published with video sequence on www. epilepticdisorders.com]

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Section: Discussionmentioning

confidence: 99%

Diaper changing‐induced reflex seizures in CDKL5‐related epilepsy

Solazzi

Fiorini

Parrini

et al. 2018

Epileptic Disorders

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Epilepsy in Children and Adults

Delaney¹,

Prevey²

1991

Foundations of Neuropsychology

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Emotion‐Induced Myoclonic Absence‐Like Seizures in a Patient with Inv‐Dup(15) Syndrome: A Clinical, EEG, and Molecular Genetic Study

Aguglia¹,

Piane²,

Gambardella³

et al. 1999

Epilepsia

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Summary:We have described a clinical EEG and molecular genetic study of a 9-year-old boy with inv-dup( 15) syndrome in whom seizures were induced by emotionally gratifying stimuli. The reflex seizures began 5-20 s after the onset of repeated cheek-kissing from his mother or after viewing of pleasant or funny events. They were characterized by bilateral discharges involving mainly the temporal regions and evolving into myoclonic absence-like seizures. Nonemotional stimuli, such as a pinch, sucking or rubbing his cheeks, or the sound of the kiss alone, failed to provoke seizures. The seizures were resistant to antiepileptic (AED) treatments. Molecular genetic investigations revealed a correct methylation pattern of the chromosomes 15, and three copies (two maternal and one paternal) of the segment 15ql1-13, including the GABRb3 gene. We hypothesize that an overexpression of cerebral y-aminobutyric acid (GABA)-mediated inhibition accounts for the severe epilepsy that we observed in this patient. Key Words: Reflex epilepsy-Chromosome disorders-GABA-Myoclonic absence seizures.The term reflex epilepsy is applied to an epilepsy in which many seizures are triggered by specific stimuli, events, or mental activities, and are mediated by neural pathways (1). Until now, there have been very few reports of reflex seizures induced by emotional stimuli (2,3).We present here the results of extensive clinical and electroencephalographic (EEG) studies of a 9-year-old boy with seizures induced by emotionally gratifying stimuli. Moreover, because this patient had an invdup(l5) syndrome, we also report the detailed cytogenetic and molecular genetic investigation of the chromosomal 15qll-ql3 region, where the y-aminobutyric acid (GABA)-receptor gene known to play a role in epileptogenesis is located.Accepted March 4, !999. Address correspondence and reprint requests to Dr. U. Aguglia at Clinica Neurologica, Policlinico Mater Domini, Via Tommaso Campanella, 88 100 Catanzaro, Italy. E-mail: aguglia.unicz@interbusiness.it CASE HISTORY Clinical historyThis patient also was included in a recent series of patients with chromosome disorders and myoclonic absence-like seizures (4). He was born a week after term (43 weeks) with a birth weight of 2,800 g and a length of 52.0 cm, after an uneventful pregnancy and delivery, except for diminished fetal activity during the last trimester. During the newborn period, he was noted to have diffuse hypotonia, no suckling response, and cryptorchidism. During early infancy, feeding was difficult, and muscular hypotonia persisted. Rapid weight gain began at age 18 months, and his psychomotor development was severely delayed. Epilepsy started at age 6 years with tonic absence seizures, mainly at awakening and during sleep. Of particular interest, from the beginning of his epilepsy, the patient also had occasional reflex seizures characterized by loss of contact and myoclonic jerks of the axial muscles, which appeared when his mother or other relatives played with him. The reflex seizures also were triggere...

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Seizures Provoked by Dressing

Cited by 3 publications

References 2 publications

Diaper changing‐induced reflex seizures in CDKL5‐related epilepsy

Diaper changing‐induced reflex seizures in CDKL5‐related epilepsy

Epilepsy in Children and Adults

Emotion‐Induced Myoclonic Absence‐Like Seizures in a Patient with Inv‐Dup(15) Syndrome: A Clinical, EEG, and Molecular Genetic Study

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