Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation
| العنوان: | Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation |
|---|---|
| المؤلفون: | Konstanze Hoertnagel, Moritz Tacke, Hannes Hoelz, Timo Roser, Eva Coppenrath, Ingo Borggraefe, Lucia Gerstl |
| المصدر: | Clinical EEG and Neuroscience. 49:187-191 |
| بيانات النشر: | SAGE Publications, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Tuberous Sclerosis Complex 1 Protein, Frameshift mutation, 03 medical and health sciences, Tuberous sclerosis, Epilepsy, 0302 clinical medicine, Germline mutation, Tuberous Sclerosis, medicine, Humans, Child, Germ-Line Mutation, Mutation Spectra, business.industry, Tumor Suppressor Proteins, Brain, Electroencephalography, General Medicine, Cortical dysplasia, medicine.disease, Magnetic Resonance Imaging, Hypsarrhythmia, Malformations of Cortical Development, 030104 developmental biology, medicine.anatomical_structure, Neurology, Female, Neurology (clinical), TSC1, medicine.symptom, business, 030217 neurology & neurosurgery |
| الوصف: | Tuberous sclerosis complex (TSC) is an autosomal-dominant inheritable neurocutaneous disease due to mutations within the TSC1 and TSC2 genes. Many patients present with West syndrome, a severe epilepsy syndrome characterized by the triad of infantile spasms, an interictal electroencephalogram (EEG) pattern termed hypsarrhythmia (continuous slow activity with an amplitude higher than 300 µV and multiregional spikes/polyspikes/sharp waves) and developmental regression. In this study, we report on a previously healthy patient with positive family history of epilepsy with new-onset epileptic encephalopathy at the age of 9 years. Clinical signs alone were not sufficient to establish the diagnosis of TSC but epilepsy panel screening revealed a novel frameshift mutation (c.90delA; p.Glu31Argfs*12) within the TSC1 gene. Segregation gene analysis detected the same mutation in the mother. Cranial magnetic resonance imaging (MRI) studies from the index patient and his mother revealed a similar pattern of isolated subcortical white matter lesions resembling most likely focal cortical dysplasia (FCD) type IIb. In summary, in these 2 related patients, a novel TSC1 frameshift mutation was associated with an isolated FCD type IIb in the absence of further CNS abnormalities usually encountered in patients with TSC, fostering our understanding of the broad mutation spectra in the TSC1 gene and the close relationship between cortical tubers and FCD type IIb. |
| تدمد: | 2169-5202 1550-0594 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f046b746dba6b58549b787d7035df276Test https://doi.org/10.1177/1550059417697841Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....f046b746dba6b58549b787d7035df276 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 21695202 15500594 |
|---|