Metabolic etiologies in West syndrome

Salar, Seda; Moshé, Solomon L.; Galanopoulou, Aristea S.

doi:10.1002/epi4.12102

Cited by 27 publications

(23 citation statements)

References 341 publications

(544 reference statements)

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“…Beyond TSC, there are rare instances in which a specific metabolic etiology of IS prompts a specific therapeutic intervention, either as an alternative or adjunct to first‐line therapy . The most notable examples include pyridoxine (vitamin B6) dependency (treated with pyridoxine or leucovorin), pyridoxal‐5‐phosphate deficiency (treated with pyridoxal‐5‐phosphate), GLUT1 deficiency (treated with the ketogenic diet), and nonketotic hyperglycinemia (ameliorated to some extent by sodium benzoate and other interventions to promote central glycine clearance).…”

Section: Special Casesmentioning

confidence: 99%

“…Beyond TSC, there are rare instances in which a specific metabolic etiology of IS prompts a specific therapeutic intervention, either as an alternative or adjunct to first-line therapy. 70 The most notable examples include pyridoxine (vitamin B6) dependency (treated with pyridoxine or leucovorin), pyridoxal-5-phosphate deficiency (treated with pyridoxal-5-phosphate), GLUT1 deficiency (treated with the ketogenic diet), and nonketotic hyperglycinemia (ameliorated to some extent by sodium benzoate and other interventions to promote central glycine clearance). Among these etiology-specific treatments, there is some evidence suggesting that high-dose pyridoxine is effective in the treatment of IS associated with etiologies other than pyridoxine dependency, 71,72 although other evidence suggests little or no benefit.…”

Section: Special Casesmentioning

confidence: 99%

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Treatment of infantile spasms

Hussain

2018

Epilepsia Open

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SummaryThe treatment of infantile spasms is challenging, especially in the context of the following: (1) a severe phenotype with high morbidity and mortality; (2) the urgency of diagnosis and successful early response to therapy; and (3) the paucity of effective, safe, and well‐tolerated therapies. Even after initially successful treatment, relapse risk is substantial and the most effective therapies pose considerable risk with long‐term administration. In evaluating any treatment for infantile spasms, the key short‐term outcome measure is freedom from both epileptic spasms and hypsarrhythmia. In contrast, the most important long‐term outcomes are enduring seizure‐freedom and measures of intellectual performance in later childhood and adulthood. First‐line treatment options—namely hormonal therapy and vigabatrin—display moderate to high efficacy but also exhibit substantial side‐effect burdens. Data on efficacy and safety of each class of therapy, as well as the combination of these therapies, are reviewed in detail. Specific hormonal therapies (adrenocorticotropic hormone and various corticosteroids) are contrasted. Those etiologies that prompt specific therapies are reviewed briefly, as are an array of second‐line therapies supported by less‐compelling data. The ketogenic diet is discussed in greater detail, with a focus on the limitations of numerous available studies that generally suggest that it is efficacious. Special discussion is allocated to cannabidiol—the investigational therapy that has received the most attention, and which is already in use in the form of various artisanal cannabis extracts. Finally, a treatment algorithm reflecting the concepts and controversies discussed in this review is presented.

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Section: Special Casesmentioning

confidence: 99%

Section: Special Casesmentioning

confidence: 99%

Treatment of infantile spasms

Hussain

2018

Epilepsia Open

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“…causes of IS, although patients with the newly recognized "ISassociated gene" disruptions, such as ARX (Aristaless-related homeobox) and CDKL5 (cyclin-dependent kinase-like 5), and STXBP1 (syntaxin-binding protein 1), may be much more likely to develop IS. 31,35 Third/fourth tier testing could include novel gene testing or repeat brain MRI, since advances in genetic technology occur rapidly, and ongoing myelination may permit visualization of small abnormalities. Despite exhaustive evaluations, a definitive etiology is not found in 30 to 50% of children.…”

Section: Subtle Spasmsmentioning

confidence: 99%

Infantile Spasms: Opportunities to Improve Care

Messer

Knupp

2020

Semin Neurol

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Infantile spasm (IS) is a distinct epilepsy syndrome characterized by epileptic spasms (the clinical seizure type) and hypsarrhythmia (the electrographic abnormality). IS is frequently accompanied by impaired neurodevelopment and is often associated with structural, genetic, or metabolic etiologies. Prompt treatment of this severe epileptic encephalopathy improves long-term outcomes but remains elusive in many situations. Despite common misconceptions, even patients with identified etiologies or preexisting developmental delay benefit from proven standard therapies, including adrenocorticotropic hormone (ACTH), oral corticosteroids, or vigabatrin. Treatment efficacy should be assessed with electroencephalography at 2 weeks, and an alternative therapy is indicated if epileptic spasms or hypsarrhythmia have not resolved. Collaboration with primary care providers is critical to mitigate the potentially serious adverse effects of standard treatments and also to provide developmental interventions. Although new approaches are on the horizon, addressing current challenges and opportunities now can dramatically improve patient outcomes.

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“…There are rare occasions in which a specific metabolic etiology of IS prompts a specific therapeutic intervention, either as an alternative or adjunct to first-line therapy [44]; the most notable examples include pyridoxine (vitamin B6) dependency (treated with pyridoxine or leucovorin), pyridoxal-5-phosphate deficiency (treated with pyridoxal-5-phosphate), glucose transporter type 1 (Glut1) deficiency (treated with the ketogenic diet), and nonketotic hyperglycinemia (ameliorated to some extent by sodium benzoate and other interventions to promote central glycine clearance) [45].…”

Section: Treatment and Prognosismentioning

confidence: 99%

Epileptic Encephalopathies in Infants and Children

Fernández-Concepción¹,

López-Jiménez²

2019

Epilepsy - Advances in Diagnosis and Therapy

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Epileptic encephalopathies represent a group of devastating epileptic disorders that appear early in life. They are characterized by pharmacoresistant generalized or focal seizures, persistent severe EEG abnormalities, and cognitive dysfunction or decline. The ictal and interictal epileptic discharges are age-specific and either are the main cause or contribute to cognitive deterioration in the idiopathic or symptomatic group, respectively. Despite choosing the most appropriate antiepileptic drugs for the seizure type and syndrome, the results are often disappointing, and polytherapy and/ or alternative therapy becomes unavoidable; in those cases, consideration should be given to the quality of life of the child and carers. In this chapter, we will discuss the clinical and electroencephalographic characteristics and evolution and management of age-related epileptic encephalopathies, recognized by the International League Against Epilepsy, as follows: early infantile epileptic encephalopathy (Ohtahara syndrome), early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, infantile spasms (West syndrome), severe myoclonic epilepsy in infancy (Dravet syndrome), myoclonic-atonic epilepsy (Doose syndrome), Lennox-Gastaut syndrome, epileptic encephalopathy with continuous spike-and-wave during sleep, and Landau-Kleffner syndrome. Their clinical features, prognosis, etiologies, and treatment are presented and updated.

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Metabolic etiologies in West syndrome

Cited by 27 publications

References 341 publications

Treatment of infantile spasms

Treatment of infantile spasms

Infantile Spasms: Opportunities to Improve Care

Epileptic Encephalopathies in Infants and Children

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