Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.

Anastasiya Aleksandrovna KozinaElena Grigorievna OkunevaNatalia Vladimirovna BaryshnikovaInessa Dmitrievna FedonyukAlexey Aleksandrovich KholinElena Stepanovna Il'inaAnna Yurievna KrasnenkoIvan Fedorovich StetsenkoNikolay Alekseevich PlotnikovOlesia Igorevna KlimchukEkaterina Ivanovna SurkovaValery Vladimirovich Ilinsky

Published in: BMC medical genetics (2020)

We identified two novel PCDH19 mutations in EIEE9 patients: a missense mutation in exon 1 (c.1236C > A, p.Asp412Glu) and a frameshift in exon 3 (c.2386_2387insGTCT, p.Thr796fs). We conclude that the age of seizure onset and the presence of intellectual disability may depend not on the type and localization of PCDH19 mutations, but on the X-inactivation status. The study also highlights the need to screen for EIEE9 among young female epilepsy patients.

Keyphrases

intellectual disability
end stage renal disease
autism spectrum disorder
ejection fraction
chronic kidney disease
prognostic factors
peritoneal dialysis
patient reported outcomes
high throughput