1,721,101 research outputs found
EEG diagnostic helpfulness in childhood epilepsies with focal cortical dysplasias. Electroclinical study of 62 personal cases
No full textThe AA studied the EEG features in 62 patients with focal cortical dysplasia and reported abnormal EEG activity awake and during sleep
Pediatric Epilepsy - Myoclonic Status in Nonprogressive Encephalopathies
No full textThe possible occurrence of myoclonic epilepsy in children with nonprogressive encephalopathy has been reported in the literature for many years by various authors ( 1–5 ). However, in the majority of these cases, the authors did not fully describe the electroclinical features of the myoclonic epilepsy or the type of encephalopathy. Moreover, they included in their series some cases in which myoclonus was not correlated with overt EEG paroxysmal activity. Additionally, there is proof in the literature, in different forms of epilepsy, of absence status with myoclonias of variable duration defi ned as “minor epileptic status,” “minor motor status” ( 1 ), “obtundation with myoclonia,” and “nonconvulsive status with ataxia” ( 5,6 ). Nevertheless, the deription of an epileptic syndrome characterized by the recurrence of long-lasting myoclonic status (MSNPE) in children with a nonprogressive encephalopathy is relatively scarce ( 7–19 ), probably because polygraphic EEG recordings are usually not routinely performed in clinical practice. A similar electroclinical picture has been described by many authors in children with nonprogressive encephalopathy, Angelman syndrome, and other genetic entities such as 4p- syndrome and Rett syndrome ( 20–26 ). However, only a few authors have stressed how, in some of these cases, the electroclinical features were typically those of an MSNPE ( 27–32 ). Recently, the MSNPE was fi rst proposed in the scheme of the ILAE Task Force on Classifi cation and Terminology ( 33 ) as a “syndrome in development” and later recognized as a well-defi ned epileptic syndrome in the group of epileptic encephalopathies ( 34,35 ). GENERA
Scotosensitive and photosensitive myoclonic seizures in an infant with trisomy 13.
No full textWe describe a male carrier of trisomy 13 with scotosensitive and photosensitive myoclonic seizures appearing at the age of 8 months and persisting until death at 20 months. The seizures consisted of massive myoclonic jerks induced both by switching the room light suddenly on or off or by IPS with a frequency of 1 s. Spontaneous seizures were absent. The child also presented from the same age with breath-holding spells. This is interesting because it represents a rare example of the co-occurrence of scotosensitive and photosensitive seizures. Furthermore, a possible association to locus on 13q31.3 has been reported for photosensitivity, while for scotosensitivity there is no previous genetic informatio
Epilepsy with myoclonic atonic seizures: an electroclinical study of 69 patients.
No full textEpilepsy with myoclonic-atonic seizures is characterized by myoclonic-atonic, absence, tonicclonic, and eventually tonic seizures, appearing in previously normal children at ages 18-60 months. We analyzed the electroclinical features, treatment, and outcome of 69 patients with myoclonic-atonic seizures; these patients were followed between 1990 and 2012 at the Juan P. Garrahan Pediatric Hospital, Buenos Aires, Argentina. No structural or metabolic etiology was identified. Based on the electroclinical features and evolution, two groups could be distinguished. The first group of 39 patients with myoclonic and myoclonic-atonic seizures with or without generalized tonic-clonic seizures and absences associated with generalized spike- and polyspike-and-wave paroxysms had excellent prognoses. The second group of 30 patients had myoclonic jerks and myoclonic-atonic seizures associated with other seizure types including tonic seizures; some had myoclonic status epilepticus and cognitive deterioration. The interictal EEG showed frequent generalized spike- and polyspike-and-wave paroxysms. In 16 patients, the seizures remitted within 3.6 years. The two groups were distinguished in retrospect, when enough time had elapsed to evaluate cognitive deterioration and different seizure types. In conclusion, epilepsy with myoclonic atonic seizures is an epileptic syndrome with a broad clinical spectrum and variable prognosis. (C) 2013 Elsevier Inc. All rights reserved
BERS-like epilepsy in subjects with focal gyral anomalies: electroclinical findings.
No full textBERS-like epilepsy in subjects with focal gyral anomalies: electroclinical findings
Longitudinal, multidimensional, observational study of 15 patients with CDKL5 Deficiency Disorder
No full textBackground: CDKL5 Deficiency Disorder (CDD) is a rare developmental and epileptic encephalopathy characterized by dominant X-linked inheritance and early infantile onset. To date, more than 300 pathogenic variants of the CDKL5 gene have been reported with different phenotypes. As a rare genetic disease, data on CDD are still limited, making the diagnostic and therapeutic process very challenging. The objective of our study was to provide a comprehensive overview of CDD, including those aspects of the disease for which there is unfortunately still limited knowledge. Materials and methods: The presence of a CDKL5 variant, cognitive impairment/delayed psychomotor development, and onset of epilepsy within the first year of life were screened for the diagnosis. Comprehensive clinical assessment, laboratory and radiological investigations were performed. Results: Fifteen (n=15) patients were enrolled in the study. In most cases, concordance was found between our data and those already present in the literature. In contrast, some other features, including the development of macrocephaly and the presence of congenital gastrointestinal malformations and spinal cord abnormalities, differ from previous findings. Conclusions: Our study provides an overview on CDD, including those features for which we still have limited knowledge and, albeit on a limited sample, several insights on this rare condition
Myoclonic status in non-progressive encephalopaties (MSNPE)
No full textThe Authors review the electroclinical pictures of a large population of 37 females and 21 males outlining the existance of an epileptic syndrome characterized by the recurrence of long-lasting myoclonic status in children with a non progressive encephalopathy.
The Authors discuss the etiology in 50% of the cases is genetic and in 25% the diagnosis was of Angelmn Syndrome.
Only an early recognition allows an adequate treatment avoiding or limiting the worsening of the neuropsychological impairment.
Furthermore a correct electroclinical analysis allows to distinguish three peculiar subsets having an important diagnostic and prognostic significance. The first characterized by the association of absences, subcontinuous jerks at times rhythmic or arrhythmic mainly positive,
brief myoclonic absences and hypnagogic startles allowing an early diagnosis of Angelman syndrome. The second characterized by the association of absence status and continuous rhythmic myoclonus, mainly negative, mixed with sudden uncontrolled continuous dyskinetic movements leading to a clinical picture of hyperkinetic aposturality. This condition affecting only females probably with cortical malformations, remains invariably refractory to all treatment.
The third characterized by a continuous spike activity on rolandic regions persisting throughout life accompanied by bilateral rhythmic myoclonias followed by an inhibitory phenomenon, leading to a progressive neuromotor deterioration corresponding to a form of myoclonic progressive epilepsy in absence of a progressive disease. Also, in these cases, the aetiological factor is frequently constituted by a cortical dysplasia involving the motor area
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