PMID- 34711204
OWN - NLM
STAT- MEDLINE
DCOM- 20211206
LR  - 20240403
IS  - 1471-2431 (Electronic)
IS  - 1471-2431 (Linking)
VI  - 21
IP  - 1
DP  - 2021 Oct 28
TI  - Early initial video-electro-encephalography combined with variant location 
      predict prognosis of KCNQ2-related disorder.
PG  - 477
LID - 10.1186/s12887-021-02946-z [doi]
LID - 477
AB  - BACKGROUND: The clinical features of KCNQ2-related disorders range from benign 
      familial neonatal seizures 1 to early infantile epileptic encephalopathy 7. The 
      genotype-phenotypic association is difficult to establish. OBJECTIVE: To explore 
      potential factors in neonatal period that can predict the prognosis of neonates 
      with KCNQ2-related disorder. METHODS: Infants with KCNQ2-related disorder were 
      retrospectively enrolled in our study in Children's Hospital of Fudan University 
      in China from Jan 2015 to Mar 2020. All infants were older than age of 12 months 
      at time of follow-up, and assessed by Bayley Scales of Infant and Toddler 
      Development-Third Edition (BSID-III) or Wechsler preschool and primary scale of 
      intelligence-fourth edition (WPPSI-IV), then divided into three groups based on 
      scores of BSID-III or WPPSI-IV: normal group, mild impairment group, 
      encephalopathy group. We collected demographic variables, clinical 
      characteristics, neuroimaging data. Considered variables include gender, 
      gestational age, birth weight, age of the initial seizures, early interictal 
      VEEG, variant location, delivery type. Variables predicting prognosis were 
      identified using multivariate ordinal logistic regression analysis. RESULTS: A 
      total of 52 infants were selected in this study. Early interictal 
      video-electro-encephalography (VEEG) (beta = 2.77, 1.20 to 4.34, P = 0.001), and 
      variant location (beta = 2.77, 0.03 to 5.5, P = 0.048) were independent risk factors 
      for prognosis. The worse the early interictal VEEG, the worse the prognosis. 
      Patients with variants located in the pore-lining domain or S4 segment are more 
      likely to have a poor prognosis. CONCLUSIONS: The integration of early initial 
      VEEG and variant location can predict prognosis. An individual whose KCNQ2 
      variant located in voltage sensor, the pore domain, with worse early initial VEEG 
      background, often had an adverse outcome.
CI  - (c) 2021. The Author(s).
FAU - Xu, Yan
AU  - Xu Y
AD  - Department of Neurology, Children's Hospital of Fudan University, National 
      Children's Medical Center, NO.399 Wanyuan Road, Minhang District, Shanghai, 
      201102, China.
FAU - Dou, Ya-Lan
AU  - Dou YL
AD  - Department of clinical Epidemiology, Children's Hospital of Fudan University, 
      National Children's Medical Center, Shanghai, China.
FAU - Chen, Xiang
AU  - Chen X
AD  - Department of Neonatology, Children's Hospital of Fudan University, National 
      Children's Medical Center, NO.399 Wanyuan Road, Minhang District, Shanghai, 
      201102, China.
FAU - Dong, Xin-Ran
AU  - Dong XR
AD  - Molecular Medical Center, Children's Hospital of Fudan University, National 
      Children's Medical Center, Shanghai, China.
FAU - Wang, Xin-Hua
AU  - Wang XH
AD  - Department of Neurology, Children's Hospital of Fudan University, National 
      Children's Medical Center, NO.399 Wanyuan Road, Minhang District, Shanghai, 
      201102, China.
FAU - Wu, Bing-Bing
AU  - Wu BB
AD  - The Molecular Genetic Diagnosis Center, Shanghai Key Lab of Birth Defects, 
      Pediatrics Research Institute, Children's Hospital of Fudan University, National 
      Children's Medical Center, Shanghai, China.
FAU - Cheng, Guo-Qiang
AU  - Cheng GQ
AD  - Department of Neonatology, Children's Hospital of Fudan University, National 
      Children's Medical Center, NO.399 Wanyuan Road, Minhang District, Shanghai, 
      201102, China. gqchengcm@163.com.
FAU - Zhou, Yuan-Feng
AU  - Zhou YF
AD  - Department of Neurology, Children's Hospital of Fudan University, National 
      Children's Medical Center, NO.399 Wanyuan Road, Minhang District, Shanghai, 
      201102, China. yuanfengzhou99@163.com.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20211028
PL  - England
TA  - BMC Pediatr
JT  - BMC pediatrics
JID - 100967804
RN  - 0 (KCNQ2 Potassium Channel)
RN  - 0 (KCNQ2 protein, human)
SB  - IM
MH  - Electroencephalography
MH  - *Epilepsy, Benign Neonatal/diagnosis/genetics
MH  - Humans
MH  - Infant
MH  - KCNQ2 Potassium Channel/genetics
MH  - Prognosis
MH  - Retrospective Studies
MH  - *Spasms, Infantile/diagnosis/genetics
PMC - PMC8555078
OTO - NOTNLM
OT  - KCNQ2-related disorder
OT  - Multivariate ordinal logistic regression analysis
OT  - Neonate
OT  - Prognosis
OT  - Variant location
OT  - Video-electro-encephalography
COIS- The authors declare that they have no competing interests.
EDAT- 2021/10/30 06:00
MHDA- 2021/12/15 06:00
PMCR- 2021/10/28
CRDT- 2021/10/29 05:31
PHST- 2021/06/28 00:00 [received]
PHST- 2021/10/07 00:00 [accepted]
PHST- 2021/10/29 05:31 [entrez]
PHST- 2021/10/30 06:00 [pubmed]
PHST- 2021/12/15 06:00 [medline]
PHST- 2021/10/28 00:00 [pmc-release]
AID - 10.1186/s12887-021-02946-z [pii]
AID - 2946 [pii]
AID - 10.1186/s12887-021-02946-z [doi]
PST - epublish
SO  - BMC Pediatr. 2021 Oct 28;21(1):477. doi: 10.1186/s12887-021-02946-z.