Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb de...
Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1
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England: John Wiley & Sons, Inc
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Language
English
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Publisher
England: John Wiley & Sons, Inc
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Intractable epilepsy was successfully controlled using perampanel, an α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid‐type glutamate receptor antagonist, in a 27‐year‐old woman who presented with a Rett syndrome‐like phenotype and novel 960‐kb deletion involving syntaxin‐binding protein 1 on chromosome 9q34.11. Perampanel may be an effective...
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Full title
Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1
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TN_cdi_doaj_primary_oai_doaj_org_article_e32d6956f67b439db0e0e901d66c508a
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e32d6956f67b439db0e0e901d66c508a
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ISSN
2050-0904
E-ISSN
2050-0904
DOI
10.1002/ccr3.5811
