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Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome

 Han Som Choi  ;  Ara Ko  ;  Se Hee Kim  ;  Seung-Tae Lee  ;  Jong Rak Choi  ;  Joon Soo Lee  ;  Heung Dong Kim  ;  Hoon-Chul Kang 
 EPILEPSIA, Vol.62(7) : 1656-1664, 2021-07 
Journal Title
Issue Date
Age of Onset ; Anti-Inflammatory Agents / therapeutic use ; Anticonvulsants / therapeutic use ; Arrhythmias, Cardiac / drug therapy ; Arrhythmias, Cardiac / etiology ; Child ; Child, Preschool ; Drug Therapy, Combination ; Electroencephalography ; Female ; Follow-Up Studies ; Genome-Wide Association Study ; Humans ; Infant ; Male ; Neuropsychological Tests ; Prednisolone / therapeutic use ; Spasm / drug therapy ; Spasm / etiology ; Spasms, Infantile / drug therapy* ; Spasms, Infantile / genetics* ; Spasms, Infantile / psychology ; Treatment Outcome ; Vigabatrin / therapeutic use
etiology ; genetic ; infantile spasms ; prognosis ; treatment
Objective: It has been known that West syndrome (WS) patients with an unknown etiology have better clinical outcomes than patients with an identified etiology of any kind. However, after the exponential discovery of genes with mutations responsible for developmental and epileptic encephalopathy (DEE), a significant proportion of patients with a previously unknown etiology have been reclassified as having a genetic etiology, requiring reinvestigation of this concept. Therefore, this study investigated clinical outcomes of WS patients with genetic and unknown etiologies.

Methods: Patients diagnosed with WS without structural or metabolic abnormalities were included in this study. The DEE gene panel, comprising 172 genes, was performed for all patients. All patients were treated using the same treatment protocol for vigabatrin and high-dose prednisolone add-on therapy. Favorable responders were defined as patients who were seizure-free and whose electroencephalogram showed Burden of Amplitudes and Epileptiform Discharges scores of 2 or less.

Results: Of the 58 patients included in the study, 17 (29.3%) patients had an identified genetic etiology. There was no significant difference in rates of favorable response at 1 and 3 months after treatment, but significantly higher proportions of patients exhibited favorable responses among those with an unknown etiology at long-term follow-up (41.2% vs. 78.0%, p = .006 at 6 months; 29.4% vs. 65.9%, p = .011 at 1 year; 23.5 vs. 65.9%, p = .003 at 2 years). Moreover, the mental, psychomotor, and social age quotients of the patients with an identified genetic etiology were reduced to a significantly greater degree since diagnosis compared with those of the patients with an unknown etiology.

Significance: WS patients with genetic and unknown etiologies did not initially exhibit significantly different response rates to the vigabatrin and high-dose prednisolone add-on treatment. However, patients with a genetic etiology exhibited significantly higher relapse rates and significantly poorer long-term responses.
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Kim, Se Hee(김세희) ORCID logo https://orcid.org/0000-0001-7773-1942
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
Lee, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
Lee, Joon Soo(이준수) ORCID logo https://orcid.org/0000-0001-9036-9343
Choi, Jong Rak(최종락) ORCID logo https://orcid.org/0000-0002-0608-2989
Choi, Han Som(최한솜) ORCID logo https://orcid.org/0000-0002-5818-7985
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