Severe myoclonic epilepsy of infancy or Dravet syndrome

2012 ◽  
pp. 78-84
Author(s):  
Carla Marini ◽  
Renzo Guerrini
2017 ◽  
Vol 32 (5) ◽  
pp. 494-498 ◽  
Author(s):  
Stephen P. Fulton ◽  
Kate Van Poppel ◽  
Amy L. McGregor ◽  
Basanagoud Mudigoudar ◽  
James W. Wheless

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.


Neurology ◽  
2006 ◽  
Vol 67 (12) ◽  
pp. 2224-2226 ◽  
Author(s):  
F. E. Jansen ◽  
L. G. Sadleir ◽  
L. A. Harkin ◽  
L. Vadlamudi ◽  
J. M. McMahon ◽  
...  

Author(s):  
Dieter Metze ◽  
Tam Nguyen ◽  
Birgit Haack ◽  
Alexander K. C. Leung ◽  
Noriko Miyake ◽  
...  

2017 ◽  
Vol 18 (2) ◽  
pp. 113-116
Author(s):  
Pavlína Danhofer ◽  
Katarína Brunová ◽  
Hana Ošlejšková

2009 ◽  
Vol 24 (8_suppl) ◽  
pp. 6S-14S ◽  
Author(s):  
Mary L. Zupanc

The developing brain is particularly susceptible to seizures. Diffuse central nervous system pathology or injury in early infancy, when the brain is most vulnerable, may lead to catastrophic epilepsies such as Ohtahara's epileptic encephalopathy and early myoclonic epileptic encephalopathy. These epileptic encephalopathies are difficult to treat and have poor prognoses. As the brain undergoes programmed synaptogenesis, apoptosis, and myelination, the epilepsy phenotypes and electroencephalography (EEG) findings change, producing age-dependent epileptic encephalopathies. Specifically, as they grow older, 40% to 60% of infants with infantile spasms and a concomitant hypsarrhythmia on EEG will develop Lennox-Gastaut syndrome with tonic and atonic seizures, associated with a synchronous, generalized 1.5- to 2-Hz spike and slow wave discharges on EEG. In the context of age-dependent epileptic encephalopathies, as an epilepsy syndrome is evolving, it is often difficult to accurately diagnose the specific epilepsy syndrome in a young child who presents with seizures. It is the clinical evolution of the seizure types and the EEG that helps the clinician make an accurate diagnosis. As more is known about the underlying pathophysiology for the various epilepsy syndromes, not only the clinical picture and EEG but also a genetic blood test will be used to accurately diagnose a specific epilepsy syndrome. A case in point would be severe myoclonic epilepsy of infancy (classically known as Dravet syndrome) and severe myoclonic epilepsy of infancy-borderland/ borderline, which are associated with specific mutations in the sodium ion channel gene SCN1A.


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