Early-onset epileptic encephalopathy with myoclonic seizures related to 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes
| Autor: | Aravindhan Veerapandiyan, Kinal Shah, Jayoung Pak, Akilandeswari Aravindhan |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine congenital hereditary and neonatal diseases and abnormalities Ohtahara syndrome Pathology medicine.medical_specialty Encephalopathy Epilepsies Myoclonic Corpus callosum 03 medical and health sciences Munc18 Proteins 0302 clinical medicine medicine Humans STXBP1 Early myoclonic encephalopathy business.industry Microfilament Proteins Brain Infant Electroencephalography General Medicine medicine.disease SPTAN1 Magnetic Resonance Imaging Hypotonia nervous system diseases 030104 developmental biology Neurology Wakefulness Neurology (clinical) Chromosome Deletion medicine.symptom Carrier Proteins business Spasms Infantile 030217 neurology & neurosurgery |
| Zdroj: | Epileptic Disorders. 20:214-218 |
| ISSN: | 1950-6945 1294-9361 |
| Popis: | We describe a 10-month-old boy with early-onset epileptic encephalopathy who was found to have a hemizygous deletion in 9q33.3-q34.11 involving STXBP1 and SPTAN1 genes. He presented at the age of 2.5 months with frequent upper extremity myoclonus, hypotonia, and facial dysmorphisms. Interictal EEG showed multifocal polyspike and wave during wakefulness and sleep. Ictal EEG revealed low-amplitude generalized sharp slow activity, followed by diffuse attenuation. Metabolic testing was unrevealing. Brain MRI showed thinning of the corpus callosum with an absence of rostrum. This patient is the second reported case with 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes associated with epileptic encephalopathy and myoclonic seizures. Larger case series are needed to better delineate this association. |
| Databáze: | OpenAIRE |
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