Reflex myoclonic epilepsy in infancy: A multicenter clinical study

Verrotti, Alberto; Matricardi, Sara; Capovilla, Giuseppe; D’Egidio, Claudia; Cusmai, Raffaella; Romeo, Antonino; Pruna, Dario; Pavone, Piero; Cappanera, Silvia; Granata, Tiziana; Gobbi, Giuseppe; Striano, Pasquale; Grosso, Salvatore; Parisi, Pasquale; Franzoni, Emilio; Striano, Salvatore; Spalice, Alberto; Marino, R. A.; Vigevano, Federico; Coppola, Giangennaro

doi:10.1016/j.eplepsyres.2012.07.004

Cited by 9 publications

(32 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although perhaps GASH:Sal seizures would be closest to the so-called "reflex myoclonic epilepsy of infancy". This refers to syndromes occurring in infants (aged 6-21 months) presenting generalized myoclonic seizures as reflex responses to auditory and/or tactile stimuli [108]. These epilepsies can be considered less severe than the GASH:Sal syndrome since some patients show spontaneous remission.…”

Section: Relevance Of the Modelmentioning

confidence: 99%

The genetic audiogenic seizure hamster from Salamanca: The GASH:Sal

Muñoz

Carballosa-Gautam

Yanowsky

et al. 2017

Epilepsy & Behavior

View full text Add to dashboard Cite

The hamster has been previously described as a paroxysmal dystonia model, but our strain is currently recognized as a model of audiogenic seizures (AGS). The original first epileptic hamster appeared spontaneously at the University of Valladolid, where it was known as the GPG:Vall line, and was transferred to the University of Salamanca where a new strain was developed, named GASH:Sal. By testing auditory brainstem responses, the GASH:Sal exhibits elevated auditory thresholds that indicate a hearing impairment. Moreover, amplified fragment length polymorphism analysis distinguished genetic differences between the susceptible GASH:Sal hamster strain and the control Syrian hamsters. The GASH:Sal constitutes an experimental model of reflex epilepsy of audiogenic origin derived from an autosomal recessive disorder. Thus, the GASH:Sal exhibits generalized tonic-clonic seizures, characterized by a short latency period after auditory stimulation, followed by wild running, a convulsive phase, and finally stupor, with origin in the brainstem. The seizure profile of the GASH:Sal is similar to those exhibited by other models of inherited AGS susceptibility, which decreases after six months of age, but the proneness across generations is maintained. The GASH:Sal can be considered a reliable model of audiogenic seizures, suitable to investigate current antiepileptic pharmaceutical treatments as well as novel therapeutic drugs.This article is part of a Special Issue entitled Genetic Models-Epilepsy.

show abstract

Section: Relevance Of the Modelmentioning

confidence: 99%

The genetic audiogenic seizure hamster from Salamanca: The GASH:Sal

Muñoz

Carballosa-Gautam

Yanowsky

et al. 2017

Epilepsy & Behavior

View full text Add to dashboard Cite

show abstract

“…6,10 We further confirm that spontaneous seizures in RMEI (32% of the subjects) usually occurs after the onset of the reflex seizures and were evident only during drowsiness and sleep. 7,9 In the present case, even though there were spontaneous seizures, epilepsy resolved without antiepileptic treatment in 6 months. This finding suggests that, because RMEI is a self-limited condition with a brief duration of seizures and fast remission of epilepsy, it is possible, at least for patients suffering from reflex-only seizures, to avoid antiepileptic therapy.…”

Section: Discussionmentioning

confidence: 45%

“…4,6,10,11 In our patient, no family history for febrile seizures or epilepsy was reported; however, a complex genetic inheritance of RMEI has been suggested, owing to the presence of febrile convulsions in some patients and to a family history of febrile convulsions or idiopathic generalized epilepsies in a significant percentage of cases. 7,9 Even though the precise pathogenic mechanism underlying this condition are unclear, an age-dependent hyperexcitability of the motor cortex may be involved. 5,6,9 Although different types of provocative stimuli are reported, including thermal, proprioceptive, visual, and photic triggers in various combination, the acoustic and tactile stimuli seem to be the most provocative.…”

Section: Discussionmentioning

confidence: 99%

“…However, some cases with sensitivity to tactile-only stimulation have also been reported in the literature. [5][6][7] We describe a child who exhibited RMEI with both spontaneous seizures during drowsiness and sleep, and reflex seizures during wakefulness and sleep. The reflex seizures were provoked only by the tactile stimulation of the vertex of the head and of the midline zones of the face, but there was no response to auditory stimuli.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Reflex Myoclonic Epilepsy of Infancy: Seizures Induced by Tactile Stimulation

Turco

Pavlidis

Facini

et al. 2016

The Journal of Pediatrics

View full text Add to dashboard Cite

show abstract

“…6 Since then many case reports have been published in literature describing RMEI. [7][8][9] RMEI may be under-described and underevaluated because of the short duration of the event, possibly misinterpreted as ''excessive startle reaction'' in otherwise healthy children. Verroti et al carried out a multicenter study by collecting data of children with RMEI.…”

Section: Discussionmentioning

confidence: 99%

A case series of reflex myoclonic absence epilepsy of infancy – an age-dependent idiopathic generalized epileptic (IGE) syndrome – with good prognosis

Kalane

2017

International Journal of Epilepsy

View full text Add to dashboard Cite

Background Myoclonic epilepsies in the infantile age have varied presentations including benign myoclonic epilepsy of infancy (MEI) on one side and Doose, west, Dravet syndrome as well as recognized syndromes on the severe spectrum on the other side. MEI is an idiopathic disorder characterized by spontaneous myoclonic attacks with onset in the first 2 years of life. Reflex myoclonic epilepsy of infancy (RMEI) has startle- and tectile-induced myoclonias and needs distinct consideration from MEI. Results Hereby, a case series of 3 infants, started with reflex myoclonic absence seizures before 12 months of age, has been described. All the infants have unremarkable birth history, normal development, and examination. They started with myoclonic jerks involving torso and upper extremities and were associated with startle induced by unexpected sounds and tectile stimulation. All children were treated with valproate and were followed till date with minimum follow-up of 12 months and showed complete seizure control at low dose of valproate. At 6-month follow-up, all children were seizure-free with normal development. Conclusion Reflex myoclonic absence epilepsy is an age-dependent idiopathic generalized epileptic (IGE) syndrome, with an apparently good prognosis. It needs to be recognized separately as new syndrome and should be differentiated from the other myoclonic epilepsies of same age.

show abstract

Reflex myoclonic epilepsy in infancy: A multicenter clinical study

Cited by 9 publications

References 16 publications

The genetic audiogenic seizure hamster from Salamanca: The GASH:Sal

The genetic audiogenic seizure hamster from Salamanca: The GASH:Sal

Reflex Myoclonic Epilepsy of Infancy: Seizures Induced by Tactile Stimulation

A case series of reflex myoclonic absence epilepsy of infancy – an age-dependent idiopathic generalized epileptic (IGE) syndrome – with good prognosis

Contact Info

Product

Resources

About