Components of generalized onset seizures with focal evolution progressing to bilateral tonic–clonic seizures using quantitative electroencephalography in children: Focal or generalized?

Juan Toro‐Perez

doi:10.1002/epi.70429

Rare Variants in PFIC-Related Genes Among Adults With Intrahepatic Cholestasis

2026-06-20

0

OA

AI

S

Shunji Hirose

K

Kota Tsuruya

Y

Yusuke Mishima

Y

Yoshitaka Arase

K

Koichi Shiraishi

V

Vu Thi Hao

S

Satsuki Ieda

M

Masayuki Tanaka

S

Sanae Isaki

T

Tatehiro Kagawa *

DOI：10.1111/hepr.70229

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Abstract

En 中文

Biallelic pathogenic variants in progressive familial intrahepatic cholestasis (PFIC)-related genes cause severe pediatric cholestasis. However, the clinical significance of heterozygous variants in adult intrahepatic cholestasis remains unclear. We investigated the prevalence of heterozygous PFIC-related gene variants in Japanese adults with intrahepatic cholestasis.

Keywords:

bile acid transport

cholestasis

drug-induced liver injury

PFIC

whole-exome sequencing

Rare Variants in PFIC-Related Genes Among Adults With Intrahepatic Cholestasis

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