Novel mutations in SLC6A5 with benign course in hyperekplexia

Infants suffering from life-threatening apnea, stridor, cyanosis, and increased muscle tone may often be misdiagnosed with infantile seizures and inappropriately treated because of lack and delay in genetic diagnosis. Here, we report a patient with increased muscle tone after birth and hypertonic at...

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Detalles Bibliográficos
Autores principales: Dafsari, Hormos Salimi, Kawalia, Amit, Sprute, Rosanne, Karakaya, Mert, Malenica, Anna, Herkenrath, Peter, Nürnberg, Peter, Motameny, Susanne, Thiele, Holger, Cirak, Sebahattin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913151/
https://www.ncbi.nlm.nih.gov/pubmed/31604777
http://dx.doi.org/10.1101/mcs.a004465

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913151/
https://www.ncbi.nlm.nih.gov/pubmed/31604777
http://dx.doi.org/10.1101/mcs.a004465

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