Male patients affected by mosaic PCDH19 mutations: five new cases

Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and mosaic males are affected, likely due to a disease mechanism named cellular interference. Until now, only four affected mosaic male patients h...

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Veröffentlicht in:	Neurogenetics 2017-07, Vol.18 (3), p.147-153
Hauptverfasser:	de Lange, I. M., Rump, P., Neuteboom, R. F., Augustijn, P. B., Hodges, K., Kistemaker, A. I., Brouwer, O. F., Mancini, G. M. S., Newman, H. A., Vos, Y. J., Helbig, K. L., Peeters-Scholte, C., Kriek, M., Knoers, N. V., Lindhout, D., Koeleman, B. P. C., van Kempen, M. J. A., Brilstra, E. H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Biomedical and Life Sciences Biomedicine Cadherins - genetics Epilepsy Epilepsy - genetics Female Females Fever Genes Genetic Predisposition to Disease Genetic screening Heterozygote High-Throughput Nucleotide Sequencing - methods Human Genetics Humans Intellectual Disability - genetics Male Males Medical records Medical wastes Molecular Medicine Mutation Mutation - genetics Neurosciences Original Original Article Seizures Seizures - complications Sex Factors
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