Corrigendum to “Reflex myoclonic epilepsy in infancy: A multicenter clinical study” [Epilepsy Res. 103 (2013) 237–244] (original) (raw)
Related papers
Reflex myoclonic epilepsy in infancy: A multicenter clinical study
Epilepsy Research, 2013
Purpose: To describe the clinical and electroencephalographic (EEG) features of reflex myoclonic epilepsy in infancy (RMEI) and long-term cognitive outcome. Methods: We enrolled 31 children from 16 neuropediatric centres in Italy, who underwent clinical and video-EEG evaluation. Cognitive assessment was performed in all patients using standardized psychometric tests. Results: The age at onset ranged from 3 to 24 months of age. Seizures were characterised in all patients by symmetric myoclonic seizures (MS), triggered by sudden unexpected acoustic (38.7%) or tactile stimuli (29%) or both (29%). Spontaneous attacks were reported in 32.2% of the cases. Ictal EEG showed generalized high-amplitude 3 Hz polyspike and wave discharges, synchronous with brief rhythmic bursts of electromyographic activity. Patients were re-evaluated after a period of 7.2 ± 5.6 years. The prognosis for seizure control was excellent in all cases and reflex MS disappeared spontaneously or after valproate treatment. The cognitive outcome was excellent in 90.3% of children.
Reflex myoclonic epilepsy in infancy: a critical review
Epileptic disorders : international epilepsy journal with videotape, 2013
Benign myoclonic epilepsy in infancy, classified among the generalised idiopathic epilepsies, is characterised by the occurrence of myoclonic seizures in the first three years of life in otherwise normal infants. Some authors have described cases of myoclonic seizures as a reflex response to sudden unexpected tactile or acoustic stimuli and this clinical entity has been proposed as a separate nosographic syndrome, referred to as "reflex myoclonic epilepsy in infancy" (RMEI). We reviewed all published articles and case reports on RMEI in order to clarify clinical and electroencephalographic findings, with particular attention to outcome and treatment. RMEI appears to be a benign variant of idiopathic myoclonic epilepsy in infancy with specific features that occur in neurologically and developmentally normal children. This rare clinical entity is often under-described and under-diagnosed, and for this reason should be brought to the attention of paediatricians in order to av...
International Journal of Epilepsy, 2017
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 ...
Brain and Development, 2001
Purpose: The aim of this study is to elucidate the clinical and neurophysiological characteristics of the myoclonic, myoclonic-astatic, or astatic seizures in patients with myoclonic-astatic epilepsy (MAE) of early childhood, and to discuss on the nosology of this unique epileptic syndrome.Subjects: The subjects included 30 patients, who fulfilled the following modified International League Against Epilepsy (ILAE) criteria for MAE, and whose main seizures were captured by video-electroencephalographs (EEG) or polygraphs. The modified ILAE criteria includes: (1) normal development before onset of epilepsy and absence of organic cerebral abnormalities; (2) onset of myoclonic, myoclonic-astatic or astatic seizures between 7 months and 6 years of age; (3) presence of generalized spike-or polyspike-wave EEG discharges at 2-3 Hz, without focal spike discharges; and (4) exclusion of severe and benign myoclonic epilepsy (SME, BME) in infants and cryptogenic Lennox-Gastaut syndrome based on the ILAE definitions. Results: The seizures were investigated precisely by video-EEG ðn ¼ 5Þ, polygraph ðn ¼ 2Þ, and video-polygraph ðn ¼ 23Þ, which identified myoclonic seizures in 16 cases (myoclonic group), atonic seizures, with or without preceding minor myoclonus, in 11 cases (atonic group), and myoclonic-atonic seizures in three cases. All patients had a history of drop attacks, apart from ten patients with myoclonic seizures. Myoclonic seizures, involving mainly the axial muscles were classified into those with mild intensity not sufficient to cause the patients to fall ðn ¼ 10Þ and those that are stronger and sufficient to cause astatic falling due to flexion of the waist or extension of the trunk ðn ¼ 6Þ. Patients in the atonic group fell straight downward, landed on their buttocks, and recovered immediately. Analysis of the ictal EEGs showed that all attacks corresponded to the generalized spike or polyspikes-and-wave complexes. In the atonic form, the spikeand-wave morphology was characterized by a positive-negative-deep-positive wave followed by a large negative slow wave. In two patients, the intensity of the atonia appeared to correspond to the depth of the positive component of the spike-and-wave complexes. We did not detect any significant differences in the clinical and EEG features and prognosis, between the atonic and myoclonic groups. Conclusions: Although the determination of exact seizure type is a prerequisite for diagnosing an epileptic syndrome, the strict differentiation of seizure type into either a myoclonic or atonic form, does not appear to have a significant impact on the outcome or in delineating this unique epileptic syndrome. At present, we consider it better to follow the current International Classification of Epileptic Syndromes and Epilepsies until a more appropriate system than the clinico-electrical approach for classifying patients with MAE is available.
Acta neurologica Belgica
Severe myoclonic epilepsy in infancy' or Dravet syndrome is a clear example of the impact of severe epilepsy on the developing child. Presenting with febrile seizures in infancy, children later on develop a severe epileptic syndrome with mental retardation. Nearly all children have life-threatening status epilepticus during the first two years of life. The clinical diagnosis can now be confirmed by DNA-analysis in a majority of patients. Most patients have a de novo mutation in the alfa subunit of the neuronal sodium channel SCN1A. In the past few years' treatment of severe myoclonic epilepsy in infancy has changed. Prevention of seizures, avoiding anti-epileptic drugs which only block sodium channels, a simple combination of two major anti-epileptic drugs (sodium valproate and topiramate) and a strict acute seizure treatment significantly improve the quality of life for these patients. Long-term follow up is necessary to evaluate if we can also improve the development possibilities for these children.
A patient with myoclonic epilepsy in infancy followed by myoclonic astatic epilepsy
Seizure, 2012
Myoclonic epilepsy in infancy (MEI), formerly called benign myoclonic epilepsy in infancy, is a primary generalised epilepsy characterised by brief, generalised myoclonic seizures (MSs) occurring during the first 2 years of life in normal children. Ictal EEGs show brief bursts of generalised spikes and waves or polyspikes and waves. Despite a typically favourable outcome, epilepsies may follow MEI, and mental retardation is occasionally observed. 1 We have previously reported the electroclinical features and long-term follow-up of 34 patients with MEI. 1 Three patients later experienced another epilepsy syndrome, while 6 experienced a single seizure, mostly commonly a febrile seizure. In two patients, juvenile myoclonic epilepsy (JME) developed at the ages of 9 and 12 years. The latter developed cryptogenic partial epilepsy Seizure 21 (2012) 300-303
Clinical and EEG characteristics of Juvenile Myoclonic Epilepsy
Pakistan Journal of Medical Sciences, 1969
Objective: To determine the clinical and electroencephalographic characteristics of patients with Juvenile Myoclonic Epilepsy (JME). Methods: In this descriptive case series study, 60 patients of Juvenile myoclonic epilepsy (JME) were included. After detailed history clinical examination, Electroencephalography (EEG) with standard protocol was performed in all patients and was analyzed by a neurologist. Results: Out of 60 patients, 26 (43.3%) were males and 34 (56.6%) were females. Mean age at the onset of myoclonic jerks (MJ) and generalized tonic clonic seizures (GTCS) was 13.7 ± 2.12 years and 14.15 ± 1.79 years respectively. Average delay in the diagnosis was 5.2 years. Myoclonic jerks (MJ) were present in all patients, GTCS in 52 (86.6%), and absence seizures in 8 (13.33%) patients. 6 (10%) had only Myoclonic Jerks. First seizure type was MJ in 52 (86.6%) and absence in 8 (13.3%). Most common precipitating factors were sleep deprivation in 80% and fatigue in 66.6%. Family history for epilepsy was positive in 20%. Diagnosis by referring physicians was JME in only 6 (10%) patients. EEG was abnormal in 42 patients (70%) showing generalized , 4-to 6-Hz polyspike and wave in 27 (45%), generalized single spike/ sharp waves in 7 patients (11.6%), 8 (13.3%) patients had 3-Hz spike-and-wave (SW) activity in addition to the polyspike-and-wave (PSW) pattern. Independent focal EEG abnormalities were noted in 12 patients (20%). Conclusion: Many of our patients were misdiagnosed by the referring physicians and were prescribed inappropriate antiepileptic drugs. Factors causing misdiagnosis were failure to elicit history of myoclonic jerks, misinterpreting myoclonic jerks as partial seizures and misinterpretation of EEG abnormalities.