Generalized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the ACVR1 Gene (R206H)
Kenichi Mishima, Hiroshi Kitoh, Anna Shiraki, Kenta Sawamura, Yasunari Kamiya, Masaki Matsushita, Shiro Imagama · 2024
Read Generalized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the ACVR1 Gene (R206H) by Kenichi Mishima, Hiroshi Kitoh, Anna Shiraki, Kenta Sawamura, Yasunari Kamiya, Masaki Matsushita, Shiro Imagama (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11668544.txt.
Description
Kenichi Mishima and co-authors report a case that links a rare bone disease with epilepsy in this 2024 paper. The bone disease makes soft tissue slowly turn to bone and is caused by a fault in one gene. It also brings nerve symptoms such as chronic pain, but its link with seizures was little known.
The patient was a young boy with the disease who broke several major bones after losing consciousness in seizures. Brain wave tests showed broad abnormal patterns, and he also had brief jerking moves of the hands and feet. He was diagnosed with a form of epilepsy that starts in youth. A standard drug stopped the seizures, though the jerks still occurred at times.
Catalog record
| CREATOR | Kenichi Mishima, Hiroshi Kitoh, Anna Shiraki, Kenta Sawamura, Yasunari Kamiya, Masaki Matsushita, Shiro Imagama |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 10 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |