eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | west syndrome |
| Symptom | C0036572|seizures |
| Sentences | 6 |
| PubMedID- 22232631 | The following criteria were used to establish the diagnosis of west syndrome: 1) clinical seizures consistent with infantile spasms, and 2) eeg findings demonstrating hypsarrhythmia, modified hypsarrhythmia, and suppression-burst. |
| PubMedID- 24235816 | Zonisamide is a sulphonamide antiepileptic drug often used to treat partial-onset, myoclonic, or generalized tonic–clonic seizures along with infantile spasms.47 this drug has been seen to decrease the formation of 8-hydroxy-2′-deoxyguanosine, a marker of oxidative damage of dna.47 it is also implicated in enhancing gaba release via allosteric action on gaba receptors.47,48 iwata et al tested the efficacy, safety, and tolerability of zonisamide in eleven patients with td. |
| PubMedID- 25266480 | Methods: we studied 74 boys who presented early onset severe seizures, including infantile spasms and developmental delay, in the setting of ee, using sanger sequencing, next-generation sequencing (ngs) and multiplex ligation-dependent probe amplification (mlpa). |
| PubMedID- 21748340 | The x-linked cyclin-dependent kinase-like 5 (cdkl5) gene is an important molecular determinant of early-onset intractable seizures with infantile spasms and rett syndrome-like phenotype. |
| PubMedID- 22459640 | Coexisting seizures in patients with infantile spasms confirmed by long-term video-electroencephalography monitoring. |
| PubMedID- 21762454 | All three had infantile spasms associated with partial seizures that responded to antiepileptic drug therapy. |
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