Newbold(SA),Becerra-Espinosa(V),Fabra-Bese... J Neurosci 2026-06-16

...PCDH19 leads to defective neuronal communication, but whether further roles beyond cell adhesion are critical for PCDH19...

Apanasenko(O),Głodek-Brzozowska(E),Guz(P),... J Clin Med 2026-06-14

Background: Cluster epilepsy related to PCDH19 is a rare X-linked disorder that mainly affects females. Atypical present...

Bochtler(KS),Batterman(AI),Koh(HY),Kessler... medRxiv 2026-06-29

...PCDH19 , n = 10). Monogenic epilepsies exhibited distinct sleep endophenotypes, including insomnia, parasomnia, and slee...

Tan(Chuan),Shard(Chloe),Ranieri(Enzo),Hyne... Hum Mol Genet 2016-05-31

...PCDH19) female limited epilepsy (PCDH19-FE; also known as epilepsy and mental retardation limited to females, EFMR; MIM3...

Higurashi(Norimichi),Takahashi(Yukitoshi),... Seizure 2016-01-04

...PCDH19 female epilepsy (PCDH19-FE) remain unclear. Here, we report that corticosteroids are effective for control of the...

Kwong(Anna Ka-Yee),Ho(Alvin Chi-Chung),Fun... PLoS One 2016-04-11

...PCDH19, SCN1A, SCN2A, STXBP1) and identified 10 point mutations [ARX (1), CDKL5 (3), KCNQ2 (2), PCDH19 (1), SCN1A (1), S...

Compagnucci(Claudia),Petrini(Stefania),Hig... Oncotarget 2016-08-22

...PCDH19 during cortical neuronal differentiation. Our data show that PCDH19 is expressed in pluripotent cells before diff...

Trivisano(Marina),Specchio(Nicola),Vigevan... Eur J Paediatr Neurol 2016-04-01

...PCDH19-related epilepsy, we tried stiripentol in a nine and half year old female patient with PCDH19-related resistant e...

Zhu(Caiye),Fan(Hongying),Yuan(Zehu),Hu(Shi... Int J Mol Sci 2016-05-24

...PCDH19, PDHA1, and SRPX2. The VSIG4 and PCDH11X genes are associated with the immune system and disease, PDHA1 is associ...

Gürsoy(Semra),Erçal(Derya) J Child Neurol 2016-10-31

...PCDH19 have been found to be associated with early-onset epileptic encephalopathies. In this review, we aimed to present...