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HelpList of scientific functions from the ailment/phenotype exhibited from sources such as the Human Phenotype Ontology (HPO) and OMIM. To learn more about the sickness, please Visit the disorder facts web page.

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A condition where There is certainly enhanced muscle mass tone to ensure arms or legs, for example, are stiff and tricky to transfer.

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Efficacy and tolerability of fenfluramine in patients with Dravet syndrome: A systematic critique and meta-Assessment.

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A seizure is really an intermittent abnormality of nervous system physiology characterised by a transient prevalence of symptoms and/or signs or symptoms as a consequence of irregular extreme or synchronous neuronal activity inside the brain.

Epileptogenic brain malformations: medical presentation, malformative styles and indications for genetic testing.

Electroclinical options and phenotypic variances in adenylosuccinate lyase deficiency: very long-phrase stick to-up of seven individuals from four households and appraisal from the literature.

Fenfluramine provides clinically meaningful reduction in frequency of fall seizures in people with Lennox-Gastaut syndrome: Interim Assessment of the open up-label extension review.

carol : 07/21/2020 Notice: OMIM is intended to be used principally by doctors along with other pros concerned with genetic Issues, by genetics scientists, and by advanced college students in science and drugs. though the OMIM databases is open up to the public, people looking for specifics of a private health care or genetic affliction are urged to consult with a professional doctor for prognosis and for answers to private thoughts. OMIM® and Online Mendelian Inheritance in gentleman® are registered trademarks from the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins College.

Fenfluramine offers clinically significant reduction in frequency of drop seizures in clients with Lennox-Gastaut syndrome: Interim Assessment of the open up-label extension review.

Comparative protection of antiepileptic medicine for neurological improvement in young children uncovered throughout pregnancy and breast feeding: a scientific assessment and community meta-analysis.

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OMIM Donation: expensive OMIM consumer, to be sure very long-term funding for that OMIM venture, We now have diversified our revenue stream. we've been identified to help keep this Web-site freely obtainable. sadly, It's not necessarily absolutely free to produce. specialist curators overview the literature and organize it to aid your perform. Over ninety% of your OMIM's working fees go to wage guidance for MD and PhD science writers and biocurators.

Comparative protection of antiepileptic medication for neurological progress in little ones exposed through pregnancy and get more info breast feeding: a scientific critique and network meta-analysis.