Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an <i>ATP1A1</i> Variant-Reference-Cited by-同舟云学术

Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an <i>ATP1A1</i> Variant

Published:2023 Issue: Volume: Page:
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Okumura Gaku¹,Nakamura Katsuya¹,Seyama Rie²,Uchiyama Yuri³,Shinagawa Jun⁴,Nishio Shinya³,Ikeda Junji¹,Takayama Shohei¹,Kodaira Minori¹,Kosho Tomoki⁵,Takumi Yutaka⁴,Matsumoto Naomichi⁶,Sekijima Yoshiki¹

Affiliation:

1. Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan

2. Department of Obstetrics and Gynecology, Juntendo University, Japan

3. Department of Rare Disease Genomics, Yokohama City University Hospital, Japan

4. Department of Otorhinolaryngology Head and Neck Surgery, Shinshu University School of Medicine, Japan

5. Center for Medical Genetics, Shinshu University Hospital, Japan

6. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_1935-23/_pdf

Reference14 articles.

1. 1. Lassuthova P, Rebelo AP, Ravenscroft G, et al. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. The American Journal of Human Genetics 102: 505-514, 2018.

2. 2. Holm TH, Lykke-Hartmann K. Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models. Front Physiol 7: 209, 2016 (in eng).

3. 3. Dohrn MF, Rebelo AP, Srivastava S, et al. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Neurology 98: 440-445, 2022 (in eng).

4. 4. Roush P. Auditory neuropathy spectrum disorder: Evaluation and management. The Hearing Journal 61 36: 38-41, 2008.

5. 5. Rance G. Auditory Neuropathy/Dys-synchrony and Its Perceptual Consequences. Trends in Amplification 9: 1-43, 2005.