View in EDS HTML Full Text PDF Full Text

Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.

Saved in:
Bibliographic Details
Title: Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.
Authors: Urabe H; Department of Neurology, NHO Niigata National Hospital, 3-52 Akasaka-cho, Kashiwazaki, 945-8585, Japan., Nakajima T; Department of Neurology, NHO Niigata National Hospital, 3-52 Akasaka-cho, Kashiwazaki, 945-8585, Japan. nakajima-md@mqb.biglobe.ne.jp.; Department of Clinical Genetics, NHO Niigata National Hospital, 3-52 Akasaka- cho, Kashiwazaki, 945-8585, Japan. nakajima-md@mqb.biglobe.ne.jp., Mitsuhashi S; Department of Neurology, St. Marianna University School of Medicine, 2-16-1 Sugao, Miyamae-ku, Kawasaki, 216-8511, Japan., Ohta K; Department of Neurology, NHO Niigata National Hospital, 3-52 Akasaka-cho, Kashiwazaki, 945-8585, Japan.; Department of Clinical Genetics, NHO Niigata National Hospital, 3-52 Akasaka- cho, Kashiwazaki, 945-8585, Japan., Fujinaka H; Department of Clinical Genetics, NHO Niigata National Hospital, 3-52 Akasaka- cho, Kashiwazaki, 945-8585, Japan., Goto K; Department of Clinical Genetics, NHO Niigata National Hospital, 3-52 Akasaka- cho, Kashiwazaki, 945-8585, Japan., Sato A; Department of Neurology, NHO Niigata National Hospital, 3-52 Akasaka-cho, Kashiwazaki, 945-8585, Japan.
Source: BMC medical genomics [BMC Med Genomics] 2025 Nov 11; Vol. 18 (1), pp. 180. Date of Electronic Publication: 2025 Nov 11.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
Description
ISSN:1755-8794
DOI:10.1186/s12920-025-02247-9