Somatic mutations in GLI 3 and OFD 1 involved in sonic hedgehog signaling cause hypothalamic hamartoma-Reference-Cited by-同舟云学术

Somatic mutations in GLI 3 and OFD 1 involved in sonic hedgehog signaling cause hypothalamic hamartoma

Published:2016-03-24 Issue:5 Volume:3 Page:356-365
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Saitsu Hirotomo¹²,Sonoda Masaki³,Higashijima Takefumi³,Shirozu Hiroshi³,Masuda Hiroshi³,Tohyama Jun⁴,Kato Mitsuhiro⁵,Nakashima Mitsuko¹,Tsurusaki Yoshinori⁶,Mizuguchi Takeshi¹,Miyatake Satoko¹,Miyake Noriko¹,Kameyama Shigeki³,Matsumoto Naomichi¹

Affiliation:

1. Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama 236‐0004 Japan

2. Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu 431‐3192 Japan

3. Department of Functional Neurosurgery Epilepsy Center Nishi‐Niigata Chuo National Hospital Niigata 950‐2085 Japan

4. Department of Child Neurology Nishi‐Niigata Chuo National Hospital Niigata 950‐2085 Japan

5. Department of Pediatrics Showa University School of Medicine Tokyo 142‐8666 Japan

6. Clinical Research Institute Kanagawa Children's Medical Center Yokohama 232‐8555 Japan

Funder

Ministry of Health, Labour and Welfare

Ministry of Education, Culture, Sports, Science, and Technology

Japan Society for the Promotion of Science

Japan Science and Technology Agency

Takeda Science Foundation

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.300

Reference45 articles.

1. Hypothalamic hamartomas and ictal laughter: Evolution of a characteristic epileptic syndrome and diagnostic value of magnetic resonance imaging

2. The Hypothalamic Hamartoma: A Model of Subcortical Epileptogenesis and Encephalopathy

3. Electrophysiological properties of human hypothalamic hamartomas

4. Hypothalamic Hamartoma: Basic Mechanisms of Intrinsic Epileptogenesis

5. Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations

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