A possible association of responsiveness to adrenocorticotropic hormone with specific GRIN1 haplotypes in infantile spasms
نویسندگان
چکیده
منابع مشابه
Association of SCN1A gene polymorphisms with infantile spasms and adrenocorticotropic hormone responsiveness.
OBJECTIVES Infantile spasms (IS) are severe epileptic encephalopathy during infancy. The SCN1A encodes the α1 subunit of the neuronal voltage-gated sodium channels, and mutations in SCN1A have been frequently detected in idiopathic epilepsy and encephalopathy, which had similar symptoms as IS. Therefore, we investigated the association of SCN1A polymorphism with the IS and the responsiveness to...
متن کاملAssociation of serotonin transporter polymorphisms with responsiveness to adrenocorticotropic hormone in infantile spasm.
BACKGROUND Serotonin or 5-hydroxytryptamine (5-HT) is an important neurotransmitter in the central nervous system. The serotonin transporter (5-HTT) is a key regulator of the level of serotonergic neurotransmission. In the present study, the contribution of 5-HTT polymorphisms to the risk of infantile spasm (IS) and the responsiveness to adrenocorticotropic hormone (ACTH) were investigated. M...
متن کاملLong-term weekly adrenocorticotropic hormone therapy for relapsed infantile spasms
Infantile spasms (IS) is the most recognized epileptic encephalopathy in early infancy, resulting in poor cognitive outcome. Adrenocorticotropic hormone (ACTH) therapy is the first-line therapy for IS, but the relapse rate is high. Relapse after initial ACTH therapy is a poor prognostic factor for longterm seizure control and outcome of cognitive function. Recently, several studies have reporte...
متن کاملLong-term cognitive outcomes of a cohort of children with cryptogenic infantile spasms treated with high-dose adrenocorticotropic hormone.
PURPOSE To evaluate the outcome of children with cryptogenic infantile spasms treated with high-dose synthetic adrenocorticotropic hormone (ACTH) and the relation between early treatment, within 1 month of onset, and outcome. METHODS We assessed the long-term cognitive and seizure outcomes of 37 patients with cryptogenic infantile spasms (onset, age 3 to 9 months) receiving standardized treat...
متن کاملVigabatrin Therapy for Infantile Spasms in a Case of Cardiofaciocutaneous Syndrome with Cardiac Hypertrophy Developing during Adrenocorticotropic Hormone Treatment.
In a patient with cardiofaciocutaneous syndrome complicated by intractable infantile spasms (West syndrome), cardiac hypertrophy developed during adrenocorticotropic hormone treatment. Various types of antiepileptic drugs, intravenous immunoglobulin, thyrotropin releasing hormone, and a ketogenic diet were ineffective in this case. However, vigabatrin both decreased clinical seizures and improv...
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2010
ISSN: 0012-1622
DOI: 10.1111/j.1469-8749.2010.03746.x