Precision therapy of developmental and epileptic-dyskinetic encephalopathy_Journal of Epilepsy

Authors：

YANG Ruihan ¹ ,  CAO Dezhi ^1,2

1. Department of Neurology, Shenzhen children’s Hospital, Shantou University Medical College, Shenzhen 518000, China;
2. Department of Neurology, Epilepsy Center, Shenzhen children’s Hospital, Shenzhen 518000, China;

Corresponding?author：

CAO Dezhi, Email: caodezhi888@aliyun.com

Keywords：

Developmental epileptic-dyskinetic encephalopathy; Developmental and epileptic encephalopathy; Movement disorders; Gene therapy; Precision therapy

DOI：

10.7507/2096-0247.202601004

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Developmental epilepsy-dyskinetic encephalopathy (DEDE) is a collective term for a group of genetic disorders characterized by refractory involuntary (hyperkinetic) movements, often accompanied by severe drug-resistant epilepsy and developmental delay or regression, with a high rate of genetic diagnosis. Driven by multidisciplinary technologies—particularly next-generation sequencing—epilepsy genetics has made significant strides. This review delineates the landscape of genetic etiologies, clinical presentations and advancements in precision medicine for developmental epilepsy-dyskinetic encephalopathy. The manuscript focuses on how specific pathogenic genes disrupt core neurobiological processes, including ion channel function and neurotransmitter metabolism. It summarizes personalized treatment approaches already applied to certain monogenic epilepsies, heralding the era of precision medicine.

Citation： YANG Ruihan, CAO Dezhi. Precision therapy of developmental and epileptic-dyskinetic encephalopathy. Journal of Epilepsy, 2026, 12(3): 257-262. doi: 10.7507/2096-0247.202601004 Copy

1.
2.
3.
4.
5.
6.
7.
8.
9.	Toward precision medicine: building a knowledge network for biomedical research and a new taxonomy of disease. Washington (DC), 2011.
10.
11.
12.
13.
14.
15.
16.
17.
18.
19.
20.
21.
22.
23.
24.
25.
26.	Wolff M, Brunklaus A, Zuberi SM. Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond. Epilepsia, 2019, 60(Suppl 3): S59-S67.
27.
28.
29.
30.
31.
32.
33.
34.
35.
36.
37.
38.
39.
40.	Horn CS, Ater SB, Hurst DL. Carbamazepine-exacerbated epilepsy in children and adolescents. Pediatr Neurol. 1986, 2(6): 340-345.
41.	Guerrini R, Dravet C, Genton P, et al. Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia. 1998, 39(5): 508-512.
42.
43.
44.
45.
46.
47.
48.
49.
50.
51.
52.
53.	Huang Q, Chan KY, Lou S, et al. An AAV capsid reprogrammed to bind human Transferrin Receptor mediates brain-wide gene delivery. bioRxiv, 2023.
54.

1.
2.
3.
4.
5.
6.
7.
8.
9. Toward precision medicine: building a knowledge network for biomedical research and a new taxonomy of disease. Washington (DC), 2011.
10.
11.
12.
13.
14.
15.
16.
17.
18.
19.
20.
21.
22.
23.
24.
25.
26. Wolff M, Brunklaus A, Zuberi SM. Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond. Epilepsia, 2019, 60(Suppl 3): S59-S67.
27.
28.
29.
30.
31.
32.
33.
34.
35.
36.
37.
38.
39.
40. Horn CS, Ater SB, Hurst DL. Carbamazepine-exacerbated epilepsy in children and adolescents. Pediatr Neurol. 1986, 2(6): 340-345.
41. Guerrini R, Dravet C, Genton P, et al. Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia. 1998, 39(5): 508-512.
42.
43.
44.
45.
46.
47.
48.
49.
50.
51.
52.
53. Huang Q, Chan KY, Lou S, et al. An AAV capsid reprogrammed to bind human Transferrin Receptor mediates brain-wide gene delivery. bioRxiv, 2023.
54.

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Precision therapy of developmental and epileptic-dyskinetic encephalopathy

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