Diagnosis and Management of Epileptic Encephalopathies in Children

Jain, Puneet; Sharma, Suvasini; Tripathi, Manjari

doi:10.1155/2013/501981

Cited by 24 publications

(54 citation statements)

References 76 publications

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“…The electroencephalographic findings in infants with epileptic encephalopathies tend to evolve with the age of the child, based on the on the degree of brain maturation [ 6 ]. For instance, the EEG may show a burst-suppression pattern in the neonatal period, hypsarrhythmia in infancy, and evolution to multifocal or generalized slow spike-wave discharges in early childhood [ 7 ]. The clinical and electroencephalographic (EEG) features thus tend to mirror the specific age-related epileptic syndrome [ 8 ].…”

Section: Iem and Epileptic Encephalopathymentioning

confidence: 99%

Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches

Sharma

Prasad

2017

IJMS

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Inborn errors of metabolism (IEM) are a rare cause of epilepsy, but seizures and epilepsy are frequently encountered in patients with IEM. Since these disorders are related to inherited enzyme deficiencies with resulting effects on metabolic/biochemical pathways, the term “metabolic epilepsy” can be used to include these conditions. These epilepsies can present across the life span, and share features of refractoriness to anti-epileptic drugs, and are often associated with co-morbid developmental delay/regression, intellectual, and behavioral impairments. Some of these disorders are amenable to specific treatment interventions; hence timely and appropriate diagnosis is critical to improve outcomes. In this review, we discuss those disorders in which epilepsy is a dominant feature and present an approach to the clinical recognition, diagnosis, and management of these disorders, with a greater focus on primarily treatable conditions. Finally, we propose a tiered approach that will permit a clinician to systematically investigate, identify, and treat these rare disorders.

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Section: Iem and Epileptic Encephalopathymentioning

confidence: 99%

Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches

Sharma

Prasad

2017

IJMS

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“…Patients may be treated with diet, antiepileptics, or other systemic medications depending on their specific diagnosis; patients with West syndrome may be treated with adrenocorticotrophin, vigabatrin, or pyridoxine and biotin, while patients with Otahara syndrome who fail to respond adequately to antiepileptics may be treated with ketogenic diet or neurosurgery in the case of structural brain malformations. 13 The specific nature and frequency of outcomes describing clinical and personal utility resulting from ES/GS for patients with CA/DD/ID have not been well characterized; therefore, we initiated a systematic evidence review of the existing literature to document these. We focused our attention on the reported and demonstrated impact of ES/ GS on clinical management, including anticipatory guidance, physical and social well-being, and the ability to influence reproductive decision-making for the patient or their family members.…”

Section: Introductionmentioning

confidence: 99%

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

Malinowski¹,

Miller

Demmer

et al. 2020

Genetics in Medicine

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A full list of authors and affiliations appears at the end of the paper.Disclaimer: The ACMG has recruited expert panels, chosen for their scientific and clinical expertise, to conduct systematic evidence reviews (SERs) to support the development of clinical practice guidelines. An SER focuses on a specific scientific question and then identifies, analyzes and summarizes the findings of relevant studies. ACMG SERs are provided primarily as educational resources for medical geneticists and other clinicians to help them provide quality medical services. They should not be considered inclusive of all relevant information on the topic reviewed. Reliance on this SER is completely voluntary and does not necessarily assure a successful medical outcome. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this SER. Clinicians also are advised to take notice of the date this SER was published, and to consider other medical and scientific information that becomes available after that date.

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“…Pediatric drug-resistant epilepsies include a group of epileptic encephalopathies that are characterized by being caused by monogenic mutations, an early onset before or around the first year of age, the presence of associated developmental and cognitive impairments and resistance to common anticonvulsant treatments [181]. These pathologies include the Otahara, West, atypical Rett, and Dravet syndrome (DS) or severe myoclonic epilepsy of infancy (SMEI).…”

Section: Dravet Syndromementioning

confidence: 99%

Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration

et al. 2020

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Oxidative stress is an imbalance between production and accumulation of oxygen reactive species and/or reactive nitrogen species in cells and tissues, and the capacity of detoxifying these products, using enzymatic and non-enzymatic components, such as glutathione. Oxidative stress plays roles in several pathological processes in the nervous system, such as neurotoxicity, neuroinflammation, ischemic stroke, and neurodegeneration. The concepts of oxidative stress and rare diseases were formulated in the eighties, and since then, the link between them has not stopped growing. The present review aims to expand knowledge in the pathological processes associated with oxidative stress underlying some groups of rare diseases: Friedreich's ataxia, diseases with neurodegeneration with brain iron accumulation, Charcot-Marie-Tooth as an example of rare neuromuscular disorders, inherited retinal dystrophies, progressive myoclonus epilepsies, and pediatric drug-resistant epilepsies. Despite the discrimination between cause and effect may not be easy on many occasions, all these conditions are Mendelian rare diseases that share oxidative stress as a common factor, and this may represent a potential target for therapies.

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Diagnosis and Management of Epileptic Encephalopathies in Children

Cited by 24 publications

References 76 publications

Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches

Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration

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