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HelpList of scientific functions of the problem/phenotype exhibited from resources like the Human Phenotype Ontology (HPO) and OMIM. For more info with regard to the illness, please Visit the disorder facts website page.
Be aware: OMIM is meant for use mainly by doctors and various professionals concerned with genetic Diseases, by genetics researchers, and by State-of-the-art learners in science and medication. whilst the OMIM databases is open up to the general public, users seeking details about a personal healthcare or genetic situation are urged to refer to with a certified health practitioner for prognosis and for responses to non-public thoughts. OMIM® and on the web Mendelian Inheritance in Man® are registered emblems from the Johns Hopkins College. Copyright® 1966-2024 Johns Hopkins College. Printed: Sept. fifteen, 2024 ×
crucial NOTE: NIH will not independently verify info submitted into the GTR; it depends on submitters to offer information that is definitely precise instead of misleading.
with precise questions on a genetic exam need to Get in touch with a health and fitness treatment company or simply a genetics Specialist.
See follow and medical rules in PubMed. The search engine results may incorporate broader matters and get more info may not capture all published recommendations. See the FAQ for particulars.
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A seizure is surely an intermittent abnormality of nervous technique physiology characterized by a transient incidence of indicators and/or signs or symptoms resulting from abnormal excessive or synchronous neuronal activity while in the Mind.
Epileptogenic brain malformations: clinical presentation, malformative designs and indications for genetic tests.
Electroclinical features and phenotypic dissimilarities in adenylosuccinate lyase deficiency: lengthy-term adhere to-up of seven individuals from four family members and appraisal of the literature.
Fenfluramine provides clinically significant reduction in frequency of fall seizures in sufferers with Lennox-Gastaut syndrome: Interim Assessment of the open up-label extension review.
These recommendations are articles or blog posts in PubMed that match particular search criteria made by MedGen to capture quite possibly the most suitable observe suggestions. This listing might not be comprehensive and will involve broader topics also. See the FAQ for specifics.
NIH can make no endorsements of exams or laboratories shown inside the GTR. GTR is not a substitute for clinical suggestions. people and shoppers
Comparative safety of antiepileptic medications for neurological growth in little ones exposed in the course of pregnancy and breast feeding: a scientific overview and community meta-Examination.
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Comparative security of antiepileptic medication for neurological improvement in little ones uncovered in the course of pregnancy and breast feeding: a systematic evaluation and network meta-Assessment.
Comparative security of antiepileptic medicines for neurological development in kids exposed throughout pregnancy and breast feeding: a scientific review and network meta-analysis.