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HelpList of medical characteristics of the affliction/phenotype exhibited from resources such as the Human Phenotype Ontology (HPO) and OMIM. For more information with regard to the condition, please Visit the condition information and facts web site.
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with unique questions about a genetic test ought to Call a overall health care supplier or simply a genetics Expert.
See apply and clinical suggestions in PubMed. The search results may well involve broader subject areas and might not capture all released suggestions. begin to see the FAQ for particulars.
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A seizure is really an intermittent abnormality of anxious program physiology characterized by a transient incidence of indications and/or symptoms as a consequence of abnormal extreme or synchronous neuronal activity in the brain.
A delay in the achievement of motor or mental milestones from the domains of development of a youngster, like motor skills, speech and language, cognitive expertise, and social and emotional competencies. This term should only be utilized to describe children youthful than five years of age.
Electroclinical options and phenotypic dissimilarities in adenylosuccinate lyase deficiency: lengthy-time period adhere to-up of 7 clients from four family members and appraisal in the literature.
extensive-time period developmental result of youngsters of girls with epilepsy, unexposed or uncovered prenatally to antiepileptic medication: a meta-Assessment of cohort scientific studies.
These rules are article content in PubMed that match specific lookup standards designed by MedGen to seize one of the most suitable practice recommendations. This list may not be extensive and could contain broader topics at the same time. begin to see the FAQ for facts.
Fenfluramine supplies clinically meaningful reduction in frequency of drop seizures in people with Lennox-Gastaut syndrome: Interim Evaluation of an open-label extension analyze.
Comparative protection of antiepileptic drugs for neurological development in youngsters exposed for the duration of pregnancy and breast feeding: a scientific critique and community meta-Assessment.
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Comparative security of antiepileptic drugs for neurological advancement in little ones uncovered for the duration of pregnancy and breast feeding: a read more systematic assessment and community meta-analysis.
Comparative safety of antiepileptic drugs for neurological development in children exposed all through pregnancy and breast feeding: a scientific overview and network meta-analysis.