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Found 176 publications

Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family.

An Emerging Role for Sigma-1 Receptors in the Treatment of Developmental and Epileptic Encephalopathies.

Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.

Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency.

Identifying juvenile myoclonic epilepsy via diffusion tensor imaging using machine learning analysis.

Fenfluramine for treatment-resistant epilepsy in Dravet syndrome and other genetically mediated epilepsies.

Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome.

Impact of COVID-19 on Spanish patients with Dravet syndrome and their caregivers: consequences of lockdown.

Improved everyday executive functioning following profound reduction in seizure frequency with fenfluramine: Analysis from a phase 3 long-term extension study in children/young adults with Dravet syndrome.

Valproic acid for myoclonic epilepsy in POLG1 carriers can be fatal.

Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients.

Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados.

Showing 1-12 of 176