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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: Glucose transporter 1 deficiency syndrome (GLUT-1 DS) is a unique genetic syndrome representing a severe metabolic encephalopathy, as a result, of insufficient glucose transport into the brain. Infantile onset seizures, acquired microcephaly, spasticity, ataxia, dystonia and mental retardation are the cardinal features of the syndrome. Over the years, the clinical spectrum of GLUT-1 DS has been expanded beyond the original phenotype. Clinical features of seizures present with a wide spectrum, however generalized seizures are reported as the most common seizure types in the patients received diagnosis of GLUT-1 DS. In recent years, there are number of epilepsy syndromes described in…association with GLUT-1 DS has been shown to be the underlying cause for 10% of early onset absence epilepsy, 5% of Myoclonic astatic epilepsy (MAE) and 1% of idiopathic generalized epilepsies. Seizures are often remained refractory despite the treatment with a number of antiepileptic medications. Valproate and benzodiazepines are relatively contraindicated for the treatment of seizures in this syndrome. Ethanol and caffeine also inhibits GLUT-1 transport activity and may exacerbate seizures. Ketogenic diet remains the most effective treatment in order to meet the energy demand of developing brain. GLUT-1 DS should be suspected in the individuals with family history of idiopathic generalized epilepsy and/or paroxysmal dyskinesia. Moreover, the families with absence epilepsy with a wide range of age of onset or seizure types should also be screened for GLUT-1 DS.
Abstract: The neuronal ceroid lipofuscinoses (NCL) are a group of genetic lysosomal storage diseases characterized by dementia, epilepsy, motor deterioration and mostly also visual loss through retinal degeneration. As a group, they represent one of the most frequent etiologies of dementia in young persons. The present classification of the NCL disorders is based on the different genes involved and on the age at clinical onset, which can be anytime between the infantile and young adult age. We describe typical clinical pictures that may be caused by NCL types in the different age groups and an economic strategy for their diagnosis. While…experimental therapies aiming to stop disease progression are being developed, palliative therapies may be disease-specific and can bring significant relief. This applies particularly to the therapy of the frequently drug-resistant epilepsy in NCL.
Abstract: Nonketotic hyperglycinemia (NKH) is an autosomal recessive inborn error in the glycine degradation pathway resulting in severe neurological impairment with intractable seizures and brain damage in the majority of the affected patients. Depending on the age of onset and on the outcome of the disease, severe and attenuated forms of NKH may be discriminated. During neonatal period, patients may present with early myoclonic encephalopathy; in the course of the disease, the picture of seizures changes, and multiple forms of seizures may occur. In patients with severe NKH, seizures remain persistent and resistant to anticonvulsant treatment. Variant NKH, caused by mutations…resulting in a deficiency of the cofactor lipoate, may lead to a clinical picture resembling severe NKH. Therapy of NKH is directed at decreasing glycine concentrations and at blocking the effect of glycine at the neurotransmitter receptors. Additionally, combined anticonvulsive treatment is necessary in most children with NKH, mainly in those with severe NKH. A few anticonvulsants have shown to be partial effective in patients with NKH. However, all reports on anticonvulsive treatment in NKH are single case reports and no long-term studies have been performed in this patient's cohort. Hence, no recommendations for the treatment of epilepsy in NKH are yet available.
Abstract: Clinical disorders known to affect inherited gamma-amino butyric acid (GABA) metabolism are autosomal recessively inherited succinic semialdehyde dehydrogenase and GABA-transaminase deficiency. The clinical presentation of succinic semialdehyde dehydrogenase deficiency includes intellectual disability, ataxia, obsessive-compulsive disorder and epilepsy with a nonprogressive course in typical cases, although a progressive form in early childhood as well as deterioration in adulthood with worsening epilepsy are reported. GABA-transaminase deficiency is associated with a severe neonatal-infantile epileptic encephalopathy.
Abstract: Niemann-Pick disease type C (NPC) is an autosomal recessive, neurovisceral lipid storage disorder. Estimated to occur in one case every 120,000 live births. Approximately 95% of patients have mutations in the Niemann-Pick disease, type C1 (NPC1) gene and 5% in the Niemann-Pick disease, type C2 (NPC2) gene. It is a highly heterogeneous disease, characterized by visceral, neurological and psychiatric manifestations. Seizures are presented as unspecific feature in 33% of NPC patients, Seizures and cataplexy have been more often recorded among late infancy and juvenile-onset cases (37–57%) than early infancy (17%) and adolescent/adult onset (6–9%). Gelastic cataplexy represent the main differential…diagnosis of seizures in a patient with NPC. In the current article, the nature of seizures in NPC, other non-epileptiform seizure like events, the frequency/impact on the disease course and their response to traditional and novel therapies as well as the outcome of a literature review is presented. Patients with NPC can experience any frequency and type of seizures, with reports suggesting they are an indicator of progression of disease. Refractory seizures have been reported in pediatric and adult populations, all of them associated with visceral, neurological and/or psychiatric symptoms. Electroencephalograms have been reported with non-specific background and interictal findings. Treatment with anticonvulsants and more recent disease specific treatments as Miglustat or hydroxypropyl-β-cyclodextrin have showed a variable response. Further studies are needed to elucidate specific features of NPC and epilepsy, as well as the impact of other developing specific therapies in seizure control.
Abstract: Pyridoxine dependent epilepsy (PDE) is an autosomal recessively inherited disorder. It is caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding the alpha-aminoadipic semialdehyde dehydrogenase enzyme in the lysine catabolic pathway. The alpha-aminoadipic semialdehyde dehydrogenase enzyme deficiency leads to accumulation of alpha-aminoadipic semialdehyde and piperidine 6-carboxylic acid, the latter inactivates pyridoxal-5-phosphate. The majority of the patients present with neonatal onset intractable seizures with a dramatic response to pyridoxine therapy. Later seizure onset up to 3 yr of age has been reported too. Generalized tonic-clonic seizures are the most common seizure type. The treatment of PDE consists of high dose pyridoxine…supplementation therapy. Since the underlying genetic defect was identified in the lysine catabolic pathway, few patients were treated with lysine-restricted diet to decrease, likely neurotoxic, alpha-aminoadipic semialdehyde and piperidine 6-carboxylic acid accumulation in the central nervous system.
Abstract: Serine deficiency disorders are rare causes of seizures in infants and children caused by a genetic defect in one of the three genes coding for the L-serine biosynthesis pathway enzymes. A wide phenotypic spectrum can be observed in patients with serine deficiency disorders ranging from a lethal disorder with multiple congenital abnormalities to a congenital microcephaly and intractable seizures presenting shortly after birth or a relatively mild phenotype with childhood absence seizures. Serine deficiency disorders can be diagnosed by cerebrospinal fluid and plasma amino acid analysis or by mutation analysis of the three genes including phosphoglycerate dehydrogenase (PHGDH), phosphoserine aminotransferase…1 (PSAT1) and phosphoserine phosphatase (PSPHD). Prompt recognition of affected patients is important, since serine deficiency disorders are treatable causes of seizures. There is a very strict window-of-opportunity to prevent developmental delay in patients with infantile and juvenile onset of phenotypes. In this paper, we present an overview of the clinical phenotypes associated with serine deficiency disorders presenting in infancy and childhood.