Presentation
In the neonatal period (3/3), they presented a typical EEG pattern characterized by bursts of paroxysmal activity separated by episodes of flat or low amplitude tracing (3/3). [research.unipd.it]
Treatment
Congenital Myasthenic Syndromes: a Clinical and Treatment Approach. Current treatment options in neurology, 20(9), 36. https://doi.org/10.1007/s11940-018-0520-7 Rodríguez Cruz, P. M., Palace, J., & Beeson, D. (2018). [igenomix.es]
Etiology
Many etiological factors including hereditary and non-hereditary conditions have been reported. However, in up to a third of all cases determining the underlying cause is not possible. [research.unipd.it]
Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]