De Novo KCNQ2 Mutation in One Case of Epilepsy of Infancy With Migrating Focal Seizures That Evolved to Infantile Spasms
| Autor: | Jing Peng, Miriam Kessi, Haolin Duan, Fei Yin |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty business.industry Epileptic encephalopathy Multifocal seizures lcsh:RJ1-570 Case Report lcsh:Pediatrics General Medicine KCNQ2 gene mutation epilepsy of infancy with migrating focal seizures medicine.disease lcsh:RC346-429 03 medical and health sciences Epilepsy 030104 developmental biology 0302 clinical medicine Refractory Mutation (genetic algorithm) medicine business infantile spasms 030217 neurology & neurosurgery lcsh:Neurology. Diseases of the nervous system |
| Zdroj: | Child Neurology Open, Vol 5 (2018) Child Neurology Open |
| Popis: | Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare type of early-onset epileptic encephalopathy that is characterized by refractory migratory multifocal seizures that migrate between hemispheres. Its etiology is not well known although it is postulated to occur due to channelopathy. The authors report the first case of EIMFS due to a de novo heterozygous mutation in exon 4(c.881C>T missense mutation, p.Ala294Val, NM_172107.2) in KCNQ2 gene which later evolved into infantile spasms. However, it is the second case of EIMFS with KCNQ2 mutation. He presented with multifocal migratory partial seizures which started at the age of 8 days. Electroencephalogram examination revealed multifocal interictal spikes that migrated from one hemisphere to the other within a seizure. It was intractable with antiepileptic drugs and adrenocorticotropic hormone. He later developed spasms from the age of 8 months. Consequently, our case supports the new association between EIMFS and KCNQ2 mutations. Moreover, it enriches the disease phenotype because of transformation. |
| Databáze: | OpenAIRE |
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