Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10
| Autor: | Rami Alhazmi, Mohammed W Chaudhary, Yousef Housawi, Raidah Albaradie, Ali Mir, Hani Alkhaldi |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Epileptologist Ataxia Cerebellar Ataxia Hearing Loss Sensorineural Mutation Missense KCNJ10 03 medical and health sciences Epilepsy 0302 clinical medicine Developmental Neuroscience Tubulopathy Seizures Intellectual Disability medicine EAST syndrome Missense mutation Humans Potassium Channels Inwardly Rectifying Child Retrospective Studies biology business.industry Valproic Acid Brain Infant General Medicine Syndrome medicine.disease Pedigree Natural history Carbamazepine Child Preschool Pediatrics Perinatology and Child Health Mutation biology.protein Anticonvulsants Female Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Braindevelopment. 41(8) |
| ISSN: | 1872-7131 |
| Popis: | EAST syndrome comprises of epilepsy, ataxia, sensorineural deafness, and tubulopathy. It is caused by a mutation in KCNJ10 gene. Less than thirty cases have been reported in the literature with emphasis on genetic mutation and renal tubulopathy. In this article, our goal is to present a comprehensive description of epilepsy and its management. A literature review is also presented to consolidate and compare our findings with the previously reported cases.Retrospective chart review was done to collect patient data. Research clinic was organized to obtain missing data. Molecular genetic testing was done at the CGC Genetics Laboratory. Electroencephalogram (EEG) was done for all patients and interpreted by a pediatric epileptologist and brain MRI was reviewed by a pediatric neuroradiologist. Developmental assessment was done by a developmental pediatrician using Griffiths Mental Developmental Scale.In patients with EAST syndrome, seizure is the first symptom occurring around 3-4 months of age. Most common seizure type was generalized tonic clonic (GTC). Usually, the seizures were brief lasting3 min but few patients also presented with status epilepticus especially when the medication was weaned. Carbamazepine (CBZ) was found to be effective in most cases. Lamotrigine (LTG), valproic acid (VPA), and topiramate (TPM) were also found to be helpful. Routine EEGs were usually normal or showed non-specific findings. In few patients, EEG showed background slowing. Brain MRI revealed hyperintensity in the dentate nuclei in some patients, and quantitative volumetric analysis studies showed volume loss in different regions of the brain especially the cerebellum. All our five patients have the same homozygous c.170CT (p.Thr57Ile) missense mutation in KCNJ10 gene.This article provides the readers with an understanding of the natural history of epilepsy in this syndrome to help in early recognition, avoid unnecessary investigations, and provide the best treatment for seizures. It also helps the physicians to share the prognosis of this rare syndrome with the parents. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect