Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant
| Autor: | Hisashi Kawawaki, Ichiro Kuki, Mitsuko Nakashima, Takeshi Inoue, Naomichi Matsumoto, Megumi Nukui, Kiyohiro Kim, Shin Okazaki, Masataka Fukuoka |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Heterozygote
Pathology medicine.medical_specialty hypomyelination Developmental Disabilities Mutation Missense Kinesins Preliminary Report lcsh:RC346-429 Epilepsy medicine Humans Preliminary Reports Global developmental delay Cerebrum Exome sequencing lcsh:Neurology. Diseases of the nervous system business.industry Infant Electroencephalography West Syndrome medicine.disease Magnetic Resonance Imaging Hypotonia Hypsarrhythmia Failure to Thrive Epileptic spasms epileptic encephalopathy Neurology epileptic spasm Failure to thrive Muscle Hypotonia Female Neurology (clinical) medicine.symptom business Spasms Infantile |
| Zdroj: | Epilepsia Open, Vol 6, Iss 1, Pp 230-234 (2021) Epilepsia Open |
| ISSN: | 2470-9239 |
| Popis: | Objective Kinesin family member 5A (KIF5A) is a molecular motor protein responsible for intracellular transport, specifically in neurons. While abnormalities in the KIF5A gene have been reported in the onset of various neurological diseases, there are no studies demonstrating an association between this gene and West syndrome. Methods In the case presented here, epileptic spasms appeared at 7 months; electroencephalogram (EEG) investigation confirmed hypsarrhythmia, resulting in a diagnosis of West syndrome. The patient exhibited peculiar facies, hypotonia, failure to thrive, and severe global developmental delay. Results Cranial magnetic resonance imaging (MRI) revealed severe delayed myelination. 123I‐iomazenil SPECT image at 7 months demonstrated decreased accumulation in bilateral areas, including the primary somatosensory and motor cortices, and the primary and association visual areas compared to an age‐matched control. Whole exome sequencing analysis demonstrated a novel de novo heterozygous missense variant in KIF5A, (NM_004984.4:c.710A>T: p. Glu237Val). Significance It was concluded that the KIF5A variant impaired the transport of GABAA receptors to the cell membrane surface, thus leading to an imbalance of these receptors between regions of the cerebrum and resulting in the onset of epilepsy. |
| Databáze: | OpenAIRE |
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