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HelpList of clinical capabilities of the situation/phenotype exhibited from resources like the Human Phenotype Ontology (HPO) and OMIM. To find out more regarding the sickness, make sure you go to the disorder information web page.
Notice: OMIM is intended for use largely by medical professionals and also other industry experts concerned with genetic Ailments, by genetics researchers, and by Superior learners in science and medication. when the OMIM database is open up to the public, buyers seeking details about a personal medical or genetic condition are urged to consult with an experienced medical doctor for analysis and for solutions to personal thoughts. OMIM® and on the internet Mendelian Inheritance in male® are registered logos of your Johns Hopkins College. Copyright® 1966-2024 Johns click here Hopkins College. Printed: Sept. 15, 2024 ×
A situation through which You can find amplified muscle tone so that arms or legs, by way of example, are rigid and tricky to move.
with precise questions on a genetic examination should really Get in touch with a well being care provider or a genetics Expert.
Efficacy and tolerability of fenfluramine in individuals with Dravet syndrome: a scientific critique and meta-Examination.
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A seizure is definitely an intermittent abnormality of anxious method physiology characterized by a transient event of signs and/or indications as a consequence of abnormal abnormal or synchronous neuronal activity while in the Mind.
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.
Electroclinical capabilities and phenotypic differences in adenylosuccinate lyase deficiency: prolonged-term follow-up of seven sufferers from four households and appraisal from the literature.
extended-term developmental consequence of children of ladies with epilepsy, unexposed or uncovered prenatally to antiepileptic medicine: a meta-Examination of cohort scientific tests.
These rules are posts in PubMed that match specific lookup requirements developed by MedGen to capture essentially the most pertinent follow recommendations. This checklist is probably not comprehensive and could include broader subjects at the same time. See the FAQ for information.
Fenfluramine delivers clinically significant reduction in frequency of fall seizures in sufferers with Lennox-Gastaut syndrome: Interim Evaluation of an open up-label extension study.
Comparative basic safety of antiepileptic prescription drugs for neurological growth in youngsters uncovered throughout pregnancy and breast feeding: a scientific evaluation and community meta-analysis.
the positioning is secure. The https:// ensures that you're connecting on the official website and that any info you supply is encrypted and transmitted securely.
Comparative protection of antiepileptic medication for neurological growth in little ones uncovered throughout pregnancy and breast feeding: a scientific evaluation and network meta-analysis.
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