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Hypothalamic Hamartomas: Evolving Understanding and Management
Hypothalamic hamartomas (HH) are rare, basilar developmental lesions with widespread comorbidities often associated with refractory epilepsy and encephalopathy. Imaging advances allow for early, even prenatal, detection. Genetic studies suggest mutations in GLI3 and other patterning genes are involv...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8610628/ https://www.ncbi.nlm.nih.gov/pubmed/34607926 http://dx.doi.org/10.1212/WNL.0000000000012773 |
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author | Cohen, Nathan T. Cross, J. Helen Arzimanoglou, Alexis Berkovic, Samuel F. Kerrigan, John F. Miller, Ilene Penn Webster, Erica Soeby, Lisa Cukiert, Arthur Hesdorffer, Dale K. Kroner, Barbara L. Saper, Clifford B. Schulze-Bonhage, Andreas Gaillard, William D. |
author_facet | Cohen, Nathan T. Cross, J. Helen Arzimanoglou, Alexis Berkovic, Samuel F. Kerrigan, John F. Miller, Ilene Penn Webster, Erica Soeby, Lisa Cukiert, Arthur Hesdorffer, Dale K. Kroner, Barbara L. Saper, Clifford B. Schulze-Bonhage, Andreas Gaillard, William D. |
author_sort | Cohen, Nathan T. |
collection | PubMed |
description | Hypothalamic hamartomas (HH) are rare, basilar developmental lesions with widespread comorbidities often associated with refractory epilepsy and encephalopathy. Imaging advances allow for early, even prenatal, detection. Genetic studies suggest mutations in GLI3 and other patterning genes are involved in HH pathogenesis. About 50%–80% of children with HH have severe rage and aggression and a majority of patients exhibit externalizing disorders. Behavioral disruption and intellectual disability may predate epilepsy. Neuropsychological, sleep, and endocrine disorders are typical. The purpose of this article is to provide a summary of the current understanding of HH and to highlight opportunities for future research. |
format | Online Article Text |
id | pubmed-8610628 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Lippincott Williams & Wilkins |
record_format | MEDLINE/PubMed |
spelling | pubmed-86106282021-11-24 Hypothalamic Hamartomas: Evolving Understanding and Management Cohen, Nathan T. Cross, J. Helen Arzimanoglou, Alexis Berkovic, Samuel F. Kerrigan, John F. Miller, Ilene Penn Webster, Erica Soeby, Lisa Cukiert, Arthur Hesdorffer, Dale K. Kroner, Barbara L. Saper, Clifford B. Schulze-Bonhage, Andreas Gaillard, William D. Neurology Review Hypothalamic hamartomas (HH) are rare, basilar developmental lesions with widespread comorbidities often associated with refractory epilepsy and encephalopathy. Imaging advances allow for early, even prenatal, detection. Genetic studies suggest mutations in GLI3 and other patterning genes are involved in HH pathogenesis. About 50%–80% of children with HH have severe rage and aggression and a majority of patients exhibit externalizing disorders. Behavioral disruption and intellectual disability may predate epilepsy. Neuropsychological, sleep, and endocrine disorders are typical. The purpose of this article is to provide a summary of the current understanding of HH and to highlight opportunities for future research. Lippincott Williams & Wilkins 2021-11-02 /pmc/articles/PMC8610628/ /pubmed/34607926 http://dx.doi.org/10.1212/WNL.0000000000012773 Text en Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License 4.0 (CC BY) (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Cohen, Nathan T. Cross, J. Helen Arzimanoglou, Alexis Berkovic, Samuel F. Kerrigan, John F. Miller, Ilene Penn Webster, Erica Soeby, Lisa Cukiert, Arthur Hesdorffer, Dale K. Kroner, Barbara L. Saper, Clifford B. Schulze-Bonhage, Andreas Gaillard, William D. Hypothalamic Hamartomas: Evolving Understanding and Management |
title | Hypothalamic Hamartomas: Evolving Understanding and Management |
title_full | Hypothalamic Hamartomas: Evolving Understanding and Management |
title_fullStr | Hypothalamic Hamartomas: Evolving Understanding and Management |
title_full_unstemmed | Hypothalamic Hamartomas: Evolving Understanding and Management |
title_short | Hypothalamic Hamartomas: Evolving Understanding and Management |
title_sort | hypothalamic hamartomas: evolving understanding and management |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8610628/ https://www.ncbi.nlm.nih.gov/pubmed/34607926 http://dx.doi.org/10.1212/WNL.0000000000012773 |
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