acetazolamide has been researched along with Neurofibromatosis 1 in 1 studies
Acetazolamide: One of the CARBONIC ANHYDRASE INHIBITORS that is sometimes effective against absence seizures. It is sometimes useful also as an adjunct in the treatment of tonic-clonic, myoclonic, and atonic seizures, particularly in women whose seizures occur or are exacerbated at specific times in the menstrual cycle. However, its usefulness is transient often because of rapid development of tolerance. Its antiepileptic effect may be due to its inhibitory effect on brain carbonic anhydrase, which leads to an increased transneuronal chloride gradient, increased chloride current, and increased inhibition. (From Smith and Reynard, Textbook of Pharmacology, 1991, p337)
Neurofibromatosis 1: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
| Excerpt | Relevance | Reference |
|---|---|---|
| " She was diagnosed with intracranial hypertension and began treatment with acetazolamide." | 4.31 | A Rare Report of the Coexistence of Sickle Cell Disease, Neurofibromatosis Type 1, and Intracranial Hypertension in a Pediatric Patient. ( Jain, A; Patel, A; Winter, T, 2023) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 1 (100.00) | 2.80 |
| Authors | Studies |
|---|---|
| Patel, A | 1 |
| Winter, T | 1 |
| Jain, A | 1 |
1 other study available for acetazolamide and Neurofibromatosis 1
| Article | Year |
|---|---|
A Rare Report of the Coexistence of Sickle Cell Disease, Neurofibromatosis Type 1, and Intracranial Hypertension in a Pediatric Patient.
Topics: Acetazolamide; Anemia, Sickle Cell; Child; Female; Humans; Hydroxyurea; Intracranial Hypertension; N | 2023 |