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HelpList of scientific features of the issue/phenotype shown from sources including the Human Phenotype Ontology (HPO) and OMIM. To learn more about the illness, you should Visit the disease information web site.
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critical NOTE: NIH isn't going to independently validate information and facts submitted on the GTR; it relies on submitters to deliver information that's accurate and never misleading.
with unique questions on a genetic take a look at need to Speak to a health and fitness treatment service provider or perhaps a genetics Expert.
Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: a scientific overview and meta-Assessment.
The site is secure. The https:// makes certain that you are connecting for the official website and that any facts you give is encrypted and transmitted securely.
A seizure is undoubtedly an intermittent abnormality of nervous procedure physiology characterized by a transient incidence of signals and/or symptoms because of irregular excessive or synchronous neuronal activity during the Mind.
Epileptogenic Mind malformations: scientific presentation, malformative patterns and indications for genetic testing.
Electroclinical functions and phenotypic variances in adenylosuccinate lyase deficiency: extensive-phrase observe-up of seven patients from 4 family members and appraisal of the literature.
Fenfluramine gives clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim Assessment of an open-label extension examine.
carol : 07/21/2020 Be aware: OMIM is intended for use mainly by physicians and other professionals concerned with genetic Issues, by genetics scientists, and by Superior learners in science and drugs. though the OMIM databases is open to the general public, buyers trying to get specifics of a private clinical or genetic ailment are urged to consult with a certified doctor for prognosis and for responses to personal issues. OMIM® and on the internet Mendelian Inheritance in Man® are registered emblems on the Johns Hopkins University. Copyright® 1966-2024 more info Johns Hopkins University.
Fenfluramine presents clinically significant reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of the open-label extension study.
Comparative security of antiepileptic prescription drugs for neurological progress in kids uncovered through pregnancy and breast feeding: a systematic evaluation and community meta-Assessment.
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Comparative safety of antiepileptic prescription drugs for neurological growth in small children uncovered throughout pregnancy and breast feeding: a scientific critique and community meta-analysis.
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