Isolated cortical tuber in an infant with genetically confirmed tuberous sclerosis complex 1 presenting with symptomatic West syndrome-Reference-Cited by-同舟云学术

Isolated cortical tuber in an infant with genetically confirmed tuberous sclerosis complex 1 presenting with symptomatic West syndrome

Published:2020-11-12 Issue:1 Volume:41 Page:58-64
ISSN:0919-6544
Container-title:Neuropathology
language:en
Short-container-title:Neuropathology

Author:

Miyata Hajime¹^ORCID,Fushimi Soichiro²³,Ota Yoko²,Vinters Harry V.⁴,Adachi Kaori⁵,Nanba Eiji⁶⁷,Akiyama Tomoyuki⁸

Affiliation:

1. Department of Neuropathology, Research Institute for Brain and Blood Vessels Akita Cerebrospinal and Cardiovascular Center Akita Japan

2. Department of Pathology and Experimental Medicine Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan

3. Department of Pathology Himeji Red Cross Hospital Himeji Japan

4. Department of Pathology & Laboratory Medicine (Neuropathology) and Neurology David Geffen School of Medicine at UCLA Los Angeles California USA

5. Research Initiative Center Organization for Research Initiative and Promotion, Tottori University Yonago Japan

6. Research Strategy Division Organization for Research Initiative and Promotion, Tottori University Yonago Japan

7. Division of Clinical Genetics Tottori University Hospital Yonago Japan

8. Department of Child Neurology Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan

Funder

Japan Agency for Medical Research and Development

Japan Epilepsy Research Foundation

Publisher

Wiley

Subject

Clinical Neurology,General Medicine,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/neup.12700

Reference27 articles.

1. Neurodevelopmental Disorders as a Cause of Seizures: Neuropathologic, Genetic, and Mechanistic Considerations

2. Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery

3. The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1

4. Insulin signaling pathways in cortical dysplasia and TSC-tubers: Tissue microarray analysis

5. Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

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1. Epileptic spasms are associated with increased stereo‐electroencephalography derived functional connectivity in tuberous sclerosis complex;Epilepsia;2022-07-25