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Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene c...
Sousa, SB; Jenkins, D; Chanudet, E; Tasseva, G; Ishida, M; Anderson, G; Docker, J; Ryten, M; Sá, J; Saraiva, JM; Barnicoat, A; Scott, R; Calder, ALenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). PSS1 is one of two...
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic v...
Kasperavičiute, D.; Catarino, C.B.; Matarin, M.; Leu, C.; Novy, J.; Tostevin, A.; Leal, B.; Hessel, E.V.S.; Hallmann, K.; Hildebrand, M.S.; Dahl, H-H.M.Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with hippocampal sclerosis are typically drug-resistant, and mesial temporal lobe epilepsy with hippocampal sclerosis is frequently associated with important co-morbidities, mandating the search for better understanding and treatment. The cause o...
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