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HelpList of scientific characteristics of the ailment/phenotype shown from sources such as the Human Phenotype Ontology (HPO) and OMIM. For more info with regard to the ailment, please Visit the sickness data web site.
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crucial Take note: NIH would not independently confirm info submitted towards the GTR; it relies on submitters to provide info that is certainly precise rather than deceptive.
with distinct questions about a genetic examination ought to Make contact with a wellbeing treatment provider or possibly a genetics Qualified.
See practice and clinical suggestions in PubMed. The search engine results may well include broader matters and may well not seize all printed guidelines. begin to see the FAQ for information.
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A seizure is really an intermittent abnormality of nervous procedure physiology characterized by a transient occurrence of signs and/or signs or symptoms because of irregular excessive or synchronous neuronal activity from the Mind.
Epileptogenic brain malformations: medical presentation, malformative designs and indications for genetic screening.
Progressive microcephaly is diagnosed when The pinnacle circumference falls progressively driving age- and gender-dependent norms.
prolonged-phrase developmental consequence of kids of ladies with epilepsy, unexposed or exposed prenatally to antiepileptic medicines: a meta-Examination of cohort studies.
carol : 07/21/2020 Notice: OMIM is meant to be used generally by doctors and various specialists concerned with genetic disorders, by genetics researchers, and by State-of-the-art students in science and drugs. whilst the OMIM database is open up to the public, end users trying to get information regarding a personal health care or genetic affliction are urged to consult with a qualified medical professional for diagnosis and for solutions to non-public queries. OMIM® and on line Mendelian Inheritance in Man® are registered trademarks from the Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins College.
Fenfluramine delivers clinically meaningful reduction in frequency of drop seizures in individuals with Lennox-Gastaut syndrome: Interim Evaluation of here an open-label extension study.
Comparative protection of antiepileptic prescription drugs for neurological growth in young children uncovered during pregnancy and breast feeding: a systematic overview and community meta-Examination.
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Comparative security of antiepileptic prescription drugs for neurological improvement in young children exposed throughout pregnancy and breast feeding: a systematic assessment and network meta-Evaluation.
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