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Journal of Pediatric Epilepsy is an English multidisciplinary peer-reviewed international journal publishing articles on all topics related to epilepsy and seizure disorders in childhood. These topics include the basic sciences related to the condition itself, the differential diagnosis, natural history and epidemiology of seizures, and the investigation and practical management of epilepsy (including drug treatment, neurosurgery and non-medical and behavioral treatments).
Journal of Pediatric Epilepsy provides an in-depth update on new subjects, and current comprehensive coverage of the latest techniques in the diagnosis and treatment of childhood epilepsy.
Journal of Pediatric Epilepsy encourages submissions from all authors throughout the world.
The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines that work in the field of epilepsy in childhood.
Abstract: The ring chromosome 20 [r(20)], epilepsy syndrome is a relatively under-diagnosed epilepsy syndrome that has a striking association with seizures, which is not seen with other morphological aberrations of chromosome 20. This syndrome is characterized by medically intractable complex partial epilepsy, subtle nocturnal frontal seizures, behavioral problems and mild mental impairment. In contrast to other epilepsy syndromes with chromosomal aberrations, dysmorphism (major or minor congenital malformations) and developmental delays are rarely reported. This lack of dysmorhism and relatively normal development in early life leads to delay in diagnosis. Additionally chromosomal testing is rarely considered in a patient with severe early…onset epilepsy who does not have dysmorphic features, but this is the usual phenotype of r(20) epilepsy syndrome. More than 60 cases of r(20) have been reported in the literature. To date there is still no published data on the incidence and prevalence of this syndrome. This disorder appears to be pan-ethnic and non-gender specific. Cases of this syndrome have been identified in different parts of the world involving different ethnicities. Epilepsy in r(20) is often intractable with frontal lobe features. Non-convulsive status epilepticus and nocturnal seizures are frequently noted as are frontal lobe epileptiform electroencephalography abnormalities. Structural brain imaging is normal in most cases and is non-contributory. Definitive diagnosis can only be made by chromosomal analysis with mosaic screening. With more widespread cytogenetic chromosomal karyotyping in non-etiological cases of epilepsy, more cases of r(20) will undoubtedly be recognized.
Abstract: Many human studies on cognition have focused on infants, preschool, and school age children. This period is characterized by peak hippocampal and cortical regional development, as well as myelinogenesis, dendritogenesis, and synaptogenesis. The presence of epilepsy and its treatment during the period of maximal white-matter growth might result in impairment in spatial learning, memory processes and other aspects of cognition. Several variables are associated with cognitive impairment in epilepsy, which includes maternal-related, seizure-related and medication-related variables. Paroxysmal seizures and electroencephalography epileptic discharges may cause transient, persistent or progressive cognitive impairment. Transient disruption of cognitive processing may occur with paroxysmal epileptic…activity. Repeated seizure activity selectively impairs myelin accumulation, consumes, and reduces hippocampal plasticity available for information processing. High doses of antiepileptic drugs (AEDs) and polypharmacy are also significant risks for cognitive impairment with AEDs. AEDs produce global changes in the excitation levels in the central nervous system and often lead to cognitive deficits. In utero exposure to AEDs may cause defects in neuronal proliferation and migration and increase apoptosis. Although the immature brain has increased vulnerability to seizures but appears to be more “resistant” to the damaging affect of epilepsy than does the mature brain, however, if sufficiently long, a seizure can result in damage at any age. Cognitive impairment even if trivial may adversely affect the child's psychosocial functioning in daily life by interference with educational skills and learning tasks. To conclude, understanding the mechanisms underlying cognitive impairment with epilepsy and AEDs raise important clinical and research implications and recommendations.
Abstract: Mutations in cyclin-dependent kinase-like 5 (CDKL5 ) have been observed in patients with epileptic encephalopathies and atypical variants of Rett syndrome (RTT) associated with early epilepsy. Determination of the type and location of CDKL5 mutations may provide molecular diagnosis and prognostic information and aid in genetic counseling for the family. Molecular analysis of CDKL5 and X-chromosome inactivation pattern in 53 Spanish RTT girls (without identifiable methyl-CpG-binding-protein 2) and nine boys with epileptic encephalopathy was performed. De novo CDKL5 mutations were identified in eight atypical RTT patients: one late regression; one preserved speech, one congenital variant with…epilepsy onset at 3 years of age, and five patients. An additional five patients with early-onset epilepsy. Seizure types and CDKL5 mutations were identified. Seizures types included infantile spasms or tonic seizures, and developing polymorphic seizures that were resistant to antiepileptic drugs. Electroencephalography records were abnormal, without characteristic pathologic pattern. Epilepsy control (total or partial) was achieved with valproate (four patients) or carbamazepine (three patients). Long-term outcome was variable, depending on type of mutation and epilepsy control. These are the first eight girls from Spain with CDKL5 mutations. Mutations were identified in early epilepsy variants with early hypotonia, but also in other atypical variants without a molecular diagnosis. This study highlights the importance of CDKL5 analysis in all atypical RTT patients without an identifiable methyl-CpG-binding-protein 2 mutation. Type and location of CDKL5 mutation and the resultant effect on protein appear to determine the severity of epilepsy.
Keywords: Cyclin-dependent kinase-like 5, drug-resistant epileptic encephalopathy, early epilepsy RTT variant, phenotype-genotype, Rett syndrome
Abstract: Various childhood epileptic syndromes have been reported to reveal generalized symmetrical spike-wave patterns preceded by unilateral focal discharges. The thalamic rhythmogenic mechanisms responsible for spike-wave discharges have been intensively investigated leading to a better understanding of their anatomo-physiological substrate. We investigated the role of the thalamus in secondary bilateral synchrony on electroencephalography (EEG) in three patients with intractable localization-related epilepsy by performing synchronous single photon emission computed tomography (SPECT) and EEG analysis. The brain scan examination was carried out after injection 18.5 MBq/kg of Tc99m-hexamethyl-propyleneamine oxime at the same time of revealing bilateral synchronous discharges on EEG. The SPECT revealed…thalamic hypoperfusion in all cases. In addition, the SPECT revealed hypoperfusion in the left cortical regions and ipsilateral thalami, corresponding to the EEG abnormalities in the cortical regions. These findings in this study suggested that the thalamus may play a role of secondary bilateral synchronization on EEG. Specific thalamic nuclei fire concurrent with cortical epileptiform discharges and are hypothesized to play a role in seizure propagation. Our findings demonstrated thalamo-cortical coupling by SPECT. In conclusion, the thalamus may play a crucial role as a pacemaker of rhythmic EEG activities such as secondary bilateral synchronous discharges.
Abstract: We studied 14 patients with severe myoclonic epilepsy of infancy (SMEI), mean age ± SD 8.5 ± 4.14 yr, 10 girls, and 13 patients with myoclonic astatic epilepsy (MAE), mean age ± SD 11.8 ± 5.19 yr, six girls. All patients underwent EEGs, cranial magnetic resonance imaging (MRI) and the Vineland scale for assessment of adaptive behavior in areas related to communication, activities of daily living, socialization, and motor skills. Our study revealed abnormalities in the neurological examination (ataxia, mild pyramidal tract abnormalities, hyperactivity, autism spectrum disorder) in all 14 patients with SMEI and 4 of the 8 patients with…MAE. EEGs showed background slowing, and focal and generalized epileptiform activity in 10 patients with SMEI. In patients with MAE EEGs showed monomorphic centroparietal theta rhythm in nine patients, and generalized epileptiform activity in all patients. Deterioration of adaptive behavior occurred in all the patients with SMEI and in eight patients with MAE. SMEI and MAE showed clinical and EEG findings according to those previously described. Nevertheless, severe epileptic encephalopathy was detected in patients with SMEI while patients with MAE presented with a milder form of epileptic encephalopathy. The outcome was good in approximately one third of the patients with MAE.
Abstract: Tuberous sclerosis complex (TSC) is a multi-organ disease characterized by hamartomatous involvement of several organs notably the brain, skin, eye, kidneys, heart and lungs. This rare disorder (incidence is estimated between 1/5,800 and 1/10,000 births) results from mutation of the TSC1 gene on chromosome 9q34 or from mutation of the TSC2 gene on chromosome 16q13. In 80% of cases, it is a consequence of a de novo mutation while in the remaining cases its transmission follows an autosomal dominant pattern. Epilepsy is the main neurological complication associated with TSC, with 80 to 90% of patients having epilepsy in their…lifetime while skin anomalies are seen in 60 to 70% of cases. There have been few reports on TSC from sub-Saharan Africa and to the best of our knowledge none has focused specifically on neurological complications mainly epilepsy and specificities of skin abnormalities in the sub-Saharan black Africans. Five cases of TSC with characteristics skin lesions and drug resistant epilepsy are reported. Children presenting with epilepsy, especially focal epilepsy should have a careful dermatological examination. Similarly, all suspected cutaneous lesions must be evaluated with imaging study for the detection of signs of TSC. An earlier management of epilepsy may prevent cognitive impairment associated with frequent epileptic seizures.
Abstract: Perioral myoclonus with absences is a syndrome of idiopathic generalized epilepsy with onset in childhood or adolescence characterized by frequent typical absences with variable severity of impairment of consciousness and ictal localized rhythmic myoclonus of the perioral facial muscles (lip myoclonus) or occasionally of the masticatory muscles (jaw myoclonus). Because of predominant motor features of absences, it is usually misdiagnosed as complex partial seizures and given drugs for partial seizures which can precipitate absence status epilepticus. We present the clinical and electroencephalogram data of a patient with perioral myoclonia with absences who had absence status epilepticus. Relevant literature is also…briefly reviewed.
Keywords: Absence seizure, perioral myoclonia, absence status epilepticus
Abstract: An 11-year-old Caucasian boy on carbamazepine (CBZ) because of his idiopathic epilepsy presented with psychosis and cyclic coma. Further evaluation revealed CBZ overdose in association with isolated hypouricemia. In this case, persistent low serum uric acid was found in the absence of other causes of hypouricemia, and the serum uric acid remained below normal until after return of blood CBZ level to the therapeutic blood range. CBZ overdose should be considered in patients with low level of uric acid in blood and psychosis or confusion.