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| Characteristics and Clinical Features of Mutations in the SCN1A and CDKL5 Genes in Children with Early-Onset Epilepsy Encephalopathy |
| LIAO Zhaomei, CAI Siming, CHEN Jianbiao, et al |
| The Second Affiliated Hospital of Hainan Medical College,Hainan Haikou 570100,China |
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Abstract Objective: To investigate the characteristics of SCN1A,CDKL5 gene mutation in children with early epileptic encephalopathy and summarize its clinical characteristics. Methods: The clinical data of 40 children with early-onset epileptic encephalopathy treated in our hospital from April 2018 to April 2019 were selected, the peripheral blood of children and related family members were collected respectively. The peripheral blood of children were analyzed by targeted second-generation sequencing technique. The peripheral blood of family members was examined by sanger sequencing and the multiple-connection-dependent probe amplification technique (Multi-Ieligation- dependen,probe amplification,MLPA) was used to screen large gene fragments in children negative for mutations in the SCN1A and CDKL5 genes. Results: Among the 40 children with EOEE, there were 12 males and 28 females. The onset time of the disease was 6 days to 18 months after birth (10.11 ±4.29 months).There were 23 cases of infant spasm, 10 cases of nonspecific EOEE disease, 4 cases of Dravet syndrome and 3 cases of Daejeon syndrome.A total of 32 (80.00%) SCNIA,CDKL5 gene mutations were found in 40 children, including 17 (42.50%) SCNIA gene mutations, 15 (37.50%) CDKL5 gene mutations, or, 17 (42.50%) missense mutations, 3 (7.50%) insertion mutations, 3 (7.50%) nonsense mutations, 3 (7.50%) shear site mutations and 6 (15.00%) microdeletion mutations.Of the 32 children with SCNIA,CDKL5 gene mutation, 27 (84.38%) had no febrile convulsion for the first time, 6 (18.75%) had tonic clonus, 3 (9.38%) had systemic spasm, and 5 (15.63%) had spasm with the development of the disease.Of the 32 children with SCNIA,CDKL5 gene mutation, no significant language and independent walking ability were found. 21 cases (65.63%) had significantly lower sitting time than those of normal children of the same age, 28 cases (87.50%) had symptoms of autism, and 11 cases (34.38%) had low hand and foot function and slow body development.Conclusion: SCN1A, CDKL5 gene mutation related to EOEE disease in children with early onset, and the clinical manifestations are various, which will seriously affect the growth and development of children. Therefore, it is necessary to explore more targeted treatments on the basis of early antiepileptic drugs and dietetic therapy.
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2022, Vol. 28 
