Nocturnal variant of benign myoclonic epilepsy of infancy: a case series

2014 ◽  
Vol 16 (1) ◽  
pp. 45-49
Author(s):  
Aparna M. Prabhu ◽  
Sheel Pathak ◽  
Divya Khurana ◽  
Agustin Legido ◽  
Karen Carvalho ◽  
...  
Keyword(s):  
Case Series ◽  
Myoclonic Epilepsy ◽  
Myoclonic Epilepsy Of Infancy

scholarly journals Corrigendum to “Do pure absence seizures occur in myoclonic epilepsy of infancy? A case series” [Seizure: Eur. J. Epilepsy 24 (2015) 8–11]

Seizure ◽  
2015 ◽  
Vol 30 ◽  
pp. 138
Author(s):  
Vincenzo Belcastro ◽  
Lucio Giordano ◽  
Dario Pruna ◽  
Cinzia Peruzzi ◽  
Francesco Madeddu ◽  
...  
Keyword(s):  
Case Series ◽  
Myoclonic Epilepsy ◽  
Absence Seizures ◽  
Myoclonic Epilepsy Of Infancy

scholarly journals Do pure absence seizures occur in myoclonic epilepsy of infancy? A case series

Seizure ◽  
2015 ◽  
Vol 24 ◽  
pp. 8-11 ◽  
Author(s):  
Vincenzo Belcastro ◽  
Lucio Giordano ◽  
Dario Pruna ◽  
Cinzia Peruzzi ◽  
Francesco Madeddu ◽  
...  
Keyword(s):  
Case Series ◽  
Myoclonic Epilepsy ◽  
Absence Seizures ◽  
Myoclonic Epilepsy Of Infancy

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

2017 ◽  
Vol 04 (01) ◽  
pp. 090-093
Author(s):  
Umesh Kalane ◽  
Shilpa Kalane
Keyword(s):  
Normal Development ◽  
Case Series ◽  
Absence Epilepsy ◽  
Good Prognosis ◽  
Myoclonic Epilepsy ◽  
The Other ◽  
Dravet Syndrome ◽  
Age Dependent ◽  
Myoclonic Epilepsy Of Infancy

Abstract 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.

De novoSCN1Amutations are a major cause of severe myoclonic epilepsy of infancy

2003 ◽  
Vol 21 (6) ◽  
pp. 615-621 ◽  
Author(s):  
Lieve Claes ◽  
Berten Ceulemans ◽  
Dominique Audenaert ◽  
Katrien Smets ◽  
Ann Löfgren ◽  
...  
Keyword(s):  
Myoclonic Epilepsy ◽  
Severe Myoclonic Epilepsy ◽  
Myoclonic Epilepsy Of Infancy

Severe Myoclonic Epilepsy of Infancy: Extended Spectrum of GEFS+?

Epilepsia ◽  
2001 ◽  
Vol 42 (7) ◽  
pp. 837-844 ◽  
Author(s):  
R. Singh ◽  
E. Andermann ◽  
W. P. A. Whitehouse ◽  
A. S. Harvey ◽  
D. L. Keene ◽  
...  
Keyword(s):  
Myoclonic Epilepsy ◽  
Extended Spectrum ◽  
Severe Myoclonic Epilepsy ◽  
Myoclonic Epilepsy Of Infancy

Vagus Nerve Stimulation in Intractable Epilepsy Associated With SCN1A Gene Abnormalities

2017 ◽  
Vol 32 (5) ◽  
pp. 494-498 ◽  
Author(s):  
Stephen P. Fulton ◽  
Kate Van Poppel ◽  
Amy L. McGregor ◽  
Basanagoud Mudigoudar ◽  
James W. Wheless
Keyword(s):  
Vagus Nerve ◽  
Nerve Stimulation ◽  
Vagus Nerve Stimulation ◽  
Seizure Control ◽  
Intractable Epilepsy ◽  
Myoclonic Epilepsy ◽  
Dravet Syndrome ◽  
Severe Myoclonic Epilepsy ◽  
Scn1a Gene ◽  
Myoclonic Epilepsy Of Infancy

Mutations in the SCN1A gene cause a spectrum of epilepsy syndromes. There are 2 syndromes that are on the severe end of this spectrum. The classic severe form, Dravet syndrome, is an epileptic encephalopathy of childhood, causing cognitive decline as well as intractable seizures. Severe Myoclonic Epilepsy of Infancy–Borderline (SMEIB) is a term used to include cases with similar severities as those with Dravet syndrome, but lacking a single feature of classic severe myoclonic epilepsy of infancy. Vagus nerve stimulation is a nonpharmacologic treatment for intractable epilepsy. A retrospective review was conducted of patients with deleterious SCN1A mutations who had vagus nerve stimulation placement for treatment of their intractable epilepsy. These children had onset of their epilepsy between 3 and 29 months of age. Seizure control was assessed 6 months after implantation. Twenty patients are included in the study, with 12 implanted at our institution. Nine of the 12 patients implanted at our institution, who had confirmed pre- and post-implantation seizure assessments, showed improvement in seizure control, which was defined as >50% reduction in generalized tonic-clonic seizures, and 4 of those 12 reported improvement in cognitive or speech development. Seven of the 8 patients not implanted at our institution reported subjective benefit, with 4 relating “marked improvement” or seizure freedom. Vagus nerve stimulation appears to impart a benefit to children with deleterious SCN1A gene abnormalities associated with intractable epilepsy.

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