Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature
Previous studies have suggested that the ACTL6B monoallelic variant is responsible for an autosomal dominant inherited intellectual developmental disorder with severe speech and ambulation deficits. The clinical phenotype of developmental and epileptic encephalopathy type 76 (DEE76) due to ACTL6B bi...
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MDPI AG
2022-12-01
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| Series: | Children |
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| author | Xiaodi Han Jie Deng Chunhong Chen Xiaohui Wang Fang Fang Hua Li Jie Luo Jie Wu |
| author_facet | Xiaodi Han Jie Deng Chunhong Chen Xiaohui Wang Fang Fang Hua Li Jie Luo Jie Wu |
| author_sort | Xiaodi Han |
| collection | DOAJ |
| description | Previous studies have suggested that the ACTL6B monoallelic variant is responsible for an autosomal dominant inherited intellectual developmental disorder with severe speech and ambulation deficits. The clinical phenotype of developmental and epileptic encephalopathy type 76 (DEE76) due to ACTL6B biallelic variants was first reported in 2019, with an autosomal recessive mode of inheritance. In this paper, we report on a child in China with DEE76 caused by a compound heterozygous variant of the ACTL6B gene, and we review the literature on ACTL6B gene variants causing DEE76 with complete clinical information. Including our case 1, the genotype and phenotypic characteristics of 18 children from 14 families are summarized. All 18 cases are autosomal recessive, including 12 with homozygous variants and six with compound heterozygous variants. A total of 17 variants have been reported so far, including 14 variants of the loss function. We summarize the clinical features using Human Phenotype Ontology (HPO) terms. We find that DEE76, caused by the ACTL6B biallelic variant, is an early-onset drug-refractory epilepsy with global developmental delay<sup>HP:0001263</sup>, hypertonia<sup>HP:0001276</sup>, and microcephaly<sup>HP:0000252</sup>, and imaging is characterized by brain delayed myelination<sup>HP:0012448</sup>. Our case of DEE76 had not been reported when the patient underwent genetic testing in 2018, and the diagnosis was clarified by the reanalysis of the data 2 years later, being the first reported Chinese patient and the only one in which the application of a ketogenic diet for antiepileptic treatment may have been effective. |
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| id | doaj.art-785653b16c2a4a34a9a44f1988374910 |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-09T17:11:31Z |
| publishDate | 2022-12-01 |
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| record_format | Article |
| series | Children |
| spelling | doaj.art-785653b16c2a4a34a9a44f19883749102023-11-24T14:02:48ZengMDPI AGChildren2227-90672022-12-01912196710.3390/children9121967Developmental and Epileptic Encephalopathy 76: Case Report and Review of LiteratureXiaodi Han0Jie Deng1Chunhong Chen2Xiaohui Wang3Fang Fang4Hua Li5Jie Luo6Jie Wu7Department of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, ChinaDepartment of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, ChinaDepartment of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, ChinaDepartment of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, ChinaDepartment of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, ChinaDepartment of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, ChinaNeonatal Center, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, ChinaDepartment of Emergency, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, ChinaPrevious studies have suggested that the ACTL6B monoallelic variant is responsible for an autosomal dominant inherited intellectual developmental disorder with severe speech and ambulation deficits. The clinical phenotype of developmental and epileptic encephalopathy type 76 (DEE76) due to ACTL6B biallelic variants was first reported in 2019, with an autosomal recessive mode of inheritance. In this paper, we report on a child in China with DEE76 caused by a compound heterozygous variant of the ACTL6B gene, and we review the literature on ACTL6B gene variants causing DEE76 with complete clinical information. Including our case 1, the genotype and phenotypic characteristics of 18 children from 14 families are summarized. All 18 cases are autosomal recessive, including 12 with homozygous variants and six with compound heterozygous variants. A total of 17 variants have been reported so far, including 14 variants of the loss function. We summarize the clinical features using Human Phenotype Ontology (HPO) terms. We find that DEE76, caused by the ACTL6B biallelic variant, is an early-onset drug-refractory epilepsy with global developmental delay<sup>HP:0001263</sup>, hypertonia<sup>HP:0001276</sup>, and microcephaly<sup>HP:0000252</sup>, and imaging is characterized by brain delayed myelination<sup>HP:0012448</sup>. Our case of DEE76 had not been reported when the patient underwent genetic testing in 2018, and the diagnosis was clarified by the reanalysis of the data 2 years later, being the first reported Chinese patient and the only one in which the application of a ketogenic diet for antiepileptic treatment may have been effective.https://www.mdpi.com/2227-9067/9/12/1967early-onset epileptic encephalopathydevelopmental and epileptic encephalopathy type 76ACTL6Bgenetic testing |
| spellingShingle | Xiaodi Han Jie Deng Chunhong Chen Xiaohui Wang Fang Fang Hua Li Jie Luo Jie Wu Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature Children early-onset epileptic encephalopathy developmental and epileptic encephalopathy type 76 ACTL6B genetic testing |
| title | Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature |
| title_full | Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature |
| title_fullStr | Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature |
| title_full_unstemmed | Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature |
| title_short | Developmental and Epileptic Encephalopathy 76: Case Report and Review of Literature |
| title_sort | developmental and epileptic encephalopathy 76 case report and review of literature |
| topic | early-onset epileptic encephalopathy developmental and epileptic encephalopathy type 76 ACTL6B genetic testing |
| url | https://www.mdpi.com/2227-9067/9/12/1967 |
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