期刊
CLINICAL GENETICS
卷 92, 期 6, 页码 654-658出版社
WILEY
DOI: 10.1111/cge.13049
关键词
channel; epileptic encephalopathy; gene test; K+-Cl- cotransporter; next generation sequencing; NGS; SLC12A5
资金
- Ministry of Education, Culture, Sports, Science and Technology
- Japan Agency for Medical Research and Development
- Ministry of Health, Labor and Welfare
- National Center of Neurology and Psychiatry
- Takeda Scientific Foundation
- Kobayashi Magobei Foundation
- Kurozumi Medical Foundation
- Japan Epilepsy Research Foundation
- Grants-in-Aid for Scientific Research [15H02548, 16K15532] Funding Source: KAKEN
Epilepsy of infancy with migrating focal seizures (EIMFS) is an infantile epileptic encephalopathy characterized by refractory seizures, severe psychomotor delay, and multiple moving epileptic discharges. The genetic etiology of EIMFS is relatively homogeneous with the majority of causative mutations found in KCNT1. Currently, gene panel or whole-exome sequencing is used for testing. To verify the pathogenicity of a variant, co-segregation of the variant and the disorder in a pedigree is important; hence, de novo mutations that are judged to be deleterious may be considered pathogenic because the patients are isolated. In contrast, in cases from non-consanguineous families, genes that cause disorders in a recessive manner should remain as potential candidates. Herein, we performed gene panel sequencing of a patient with EIMFS from a non-consanguineous family, and found a compound heterozygous constellation consisting of a maternally inherited p.Ser399Leu and a de novo p.Arg880Leu in SLC12A5, which encodes the neuronal KCC2 cotransporter. These unique mutations show gene variants that act in a recessive manner may be pathogenic for patients from non-consanguineous families.
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