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KCNQ2-related disorder

MedGen UID:
489988
•Concept ID:
CN169299
•
Disease or Syndrome
Synonyms: KCNQ2-related condition; KCNQ2-Related Disorders

Professional guidelines

PubMed

Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.
Bhatia S, Pal S, Kulshrestha S, Gupta D, Soni A, Saxena R, Bijarnia-Mahay S, Verma IC, Puri RD
Eur J Hum Genet 2024 Sep;32(9):1106-1115. Epub 2024 Apr 11 doi: 10.1038/s41431-024-01569-z. PMID: 38605122Free PMC Article
KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.
Falsaperla R, Criscione R, Cimino C, Pisani F, Ruggieri M
Neuropediatrics 2023 Oct;54(5):297-307. Epub 2023 Mar 22 doi: 10.1055/a-2060-4576. PMID: 36948217

Recent clinical studies

Etiology

Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder.
Xu Y, Dou YL, Chen X, Dong XR, Wang XH, Wu BB, Cheng GQ, Zhou YF
BMC Pediatr 2021 Oct 28;21(1):477. doi: 10.1186/s12887-021-02946-z. PMID: 34711204Free PMC Article

Diagnosis

Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder.
Xu Y, Dou YL, Chen X, Dong XR, Wang XH, Wu BB, Cheng GQ, Zhou YF
BMC Pediatr 2021 Oct 28;21(1):477. doi: 10.1186/s12887-021-02946-z. PMID: 34711204Free PMC Article

Prognosis

Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder.
Xu Y, Dou YL, Chen X, Dong XR, Wang XH, Wu BB, Cheng GQ, Zhou YF
BMC Pediatr 2021 Oct 28;21(1):477. doi: 10.1186/s12887-021-02946-z. PMID: 34711204Free PMC Article

Clinical prediction guides

Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder.
Xu Y, Dou YL, Chen X, Dong XR, Wang XH, Wu BB, Cheng GQ, Zhou YF
BMC Pediatr 2021 Oct 28;21(1):477. doi: 10.1186/s12887-021-02946-z. PMID: 34711204Free PMC Article

Supplemental Content

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    Clinical resources

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    Related information

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      Related medical variations
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    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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