Current Treatment of Myoclonic Astatic Epilepsy: Clinical Experience at the Children's Hospital of Philadelphia

Division of Neurology, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
Epilepsia (Impact Factor: 4.57). 10/2007; 48(9):1703-7. DOI: 10.1111/j.1528-1167.2007.01186.x
Source: PubMed


Myoclonic astatic epilepsy (MAE) is a generalized epilepsy of early childhood. Little is known about the use of newer antiepileptic treatments (AET) in MAE. The purpose of this study was to describe the characteristics, treatment, and outcome of a contemporary MAE cohort exposed to the new generation AET.
Charts of subjects with MAE treated between 1998 and 2005 were reviewed.
Twenty-three subjects (19 boys), with a median (range) follow-up of 38 (2- 86) months were identified. Thirty-nine percent had a family history of epilepsy, and 39% had family history of febrile seizures. Age at seizure onset was a median of 36 (12-24) months. Initial EEG was normal in 30%. When seizures ceased, EEG background and epileptiform abnormalities persisted in 17 and 58%, respectively. On average, each subject was exposed to five AET. The most frequently used AET was valproate (83%). Seizure freedom occurred spontaneously in three subjects, with ethosuximide and levetiracetam in one each, valproate and lamotrigine in two each, topiramate in three and the ketogenic diet (KD) in five subjects. By 36 months after seizure onset, 67% achieved seizure freedom. At the last visit, 43% were developmentally normal, 52% had mild, and 5% had moderate cognitive disabilities. Time to seizure freedom did not correlate with cognitive outcome.
The new generation of AET may offer significant benefit to children with MAE. The KD was the most effective AET in this series, and perhaps should be considered earlier in treatment.

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Available from: Sudha Kilaru Kessler, Jan 12, 2015
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    • "On the other hand, the KD seems to be mainly effective for of seizure worsening and functional deterioration [7], which is the case in status epilepticus and also epileptic encephalopathy [15]. The KD was indeed reported as largely useful in epileptic encephalopathies through retrospective studies, namely Dravet syndrome [16] [17], myoclonic– astatic epilepsy [4] [18], infantile spasms [19], Lennox–Gastaut syndrome [20], FIRES [5], and refractory absences [21]. In all these conditions, the diet was added to the antiepileptic medication. "
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    ABSTRACT: Hormonal therapy or ketogenic diet often permits overcoming the challenging periods of many epileptic encephalopathies (West and Lennox-Gastaut syndromes and encephalopathy with continuous spike-waves in slow sleep), but relapse affects over 20% of patients. We report here a monocenter pilot series of 42 consecutive patients in whom we combined oral steroids with the ketogenic diet for corticosteroid-resistant or -dependent epileptic encephalopathy. We retrospectively evaluated the effect on seizure frequency, interictal spike activity, neuropsychological course, and steroid treatment course. Twenty-three patients had West syndrome (WS), 13 had encephalopathy with continuous spike-waves in slow sleep (CSWS), and six others had miscellaneous epileptic encephalopathies. All patients succeeded to reach 0.8 to 1.6g/l ketone bodies in the urine following the usual KD regimen. For at least 6months, 14/42 responded to the addition of the ketogenic diet: 4/23 with WS, 8/13 with CSWS, and 2/6 with miscellaneous epileptic encephalopathies. The addition of the KD allowed withdrawing steroids in all responders. Among them, 10/15 had been patients with steroid-dependent epileptic encephalopathy and 4/27 patients with steroid-resistant epileptic encephalopathy. Therefore, the ketogenic diet can be used successfully in combination with corticosteroids for epileptic encephalopathies. Patients presenting with steroid-dependent CSWS seem to be the best candidates. Copyright © 2015 Elsevier Inc. All rights reserved.
    Epilepsy & Behavior 06/2015; 48:61-65. DOI:10.1016/j.yebeh.2015.03.003 · 2.26 Impact Factor
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    • "Structural abnormalities of the brain are typically absent on imaging. The first line treatment for MAE varies by practitioner, but good results have been reported with a combination of AEDs, including ethosuximide, levetiracetam, valproate or lamotrigine, and the ketogenic diet [55]. Prognosis in MAE patients is variable, but it has been reported that nearly two-thirds of patients may experience seizure freedom following medical therapy [55, 56]. "
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    ABSTRACT: Pediatric epileptiform encephalopathies are a group of neurologically devastating disorders related to uncontrolled ictal and interictal epileptic activity, with a poor prognosis. Despite the number of pharmacological options for treatment of epilepsy, many of these patients are drug resistant. For these patients with uncontrolled epilepsy, motor and/or neuropsychological deterioration is common. To prevent these secondary consequences, surgery is often considered as either a curative or a palliative option. Magnetic resonance imaging to look for epileptic lesions that may be surgically treated is an essential part of the workup for these patients. Many surgical procedures for the treatment of epileptiform encephalopathies have been reported in the literature. In this paper the evidence for these procedures for the treatment of pediatric epileptiform encephalopathies is reviewed.
    10/2013; 2013:720841. DOI:10.1155/2013/720841
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    • "Doose has reported that 54% of patients over 7 years of age were seizure free for 2 or more years [9]. Oguni et al. have noted that complete freedom from seizures had achieved within 3 years by 68% of patients (89% of their subjects had myoclonic and astatic seizures) [11], and similarly, Kilaru et al. have shown 67% of their subjects becoming seizure free for at least 6 months [13]. Nevertheless , these findings also indicate that about a third of the patients studied had poor prognosis (frequent or intractable seizures). "
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    ABSTRACT: Background: Myoclonic-astatic epilepsy (MAE) is an epileptic syndrome characterized by unique myoclonus, myoclonic-astatic, or astatic seizures in childhood. MAE prognosis vary from spontaneous remission to intractable seizures with profound mental retardation. Aim: Identifying early risk factors may optimize the treatment of children with MAE. Our hypothesis is early onset age and focal spike discharges on EEG indicate a poor MAE prognosis. Methods: Using the medical records of 9 children with MAE, we analyzed their clinical histories, EEG findings, and seizure symptoms. All patients were given follow-up observations/treatments by our department for at least 2years after MAE onset. Results: Five of the patients were given favorable prognoses because their seizures disappeared within 2years of onset; the other 4 received poor prognoses because their seizures continued more than 2years. MAE onset in patient with refractory seizures was earlier than that in those with a favorable prognosis (7-24months vs. 23-38months). All the patients with refractory seizures showed moderate or severe mental retardation. Among the 5 patients with good prognosis, EEGs showed two with focal spike discharges and three with only generalized spike discharges. In contrast, all cases with a poor prognosis had focal spike discharges. Conclusions: MAE onset in patients with refractory seizures occurs earlier than in those with favorable prognosis. Prognosis was excellent when EEG findings show no focal spike discharges. Both early seizure onset and the focal spike discharges associated with MAE are indicators of poor prognosis.
    Brain & development 09/2013; 36(7). DOI:10.1016/j.braindev.2013.08.009 · 1.88 Impact Factor
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