Abstract | INTRODUCTION: CASE REPORT: We report a case of a 10-month-old girl presented with reflex epileptic seizures provoked by somatosensory stimuli with a novel de novo mutation of SCN1A gene. She was observed to have seizures with eye deviation, unresponsiveness provoked by somatosensory stimuli of the face. Video-electroencephalography (EEG) revealed generalized spike-and-wave patterns. She experienced one or two focal clonic seizures per month over the 6 months while taking valproate and carbamazepine. At 22 months old, she was hospitalized with an episode of generalized tonic clonic febrile status epilepticus lasting for 45 min. Interictal sleep video-EEG showed sharp-and-slow wave discharges in the left occipital lobe with normal background activity. We found a de novo heterozygote mutation in SCN1A gene, c.1337A>C (p. Q422P). CONCLUSION: To our knowledge, this mutation has not been previously described in the SCN1A gene and this is the first report of epilepsy related to SCN1A mutation as a presenting with reflex epilepsy of somatosensory stimuli. This case report contributes to an expanding clinical spectrum of patients with SCN1A mutations.
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Authors | Pinar Arican, Nihal Olgac Dundar, Dilek Cavusoglu, Taha Resid Ozdemır, Pinar Gencpinar |
Journal | Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
(Childs Nerv Syst)
Vol. 33
Issue 4
Pg. 677-680
(Apr 2017)
ISSN: 1433-0350 [Electronic] Germany |
PMID | 27889818
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- NAV1.1 Voltage-Gated Sodium Channel
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Topics |
- DNA Mutational Analysis
- Electroencephalography
- Epilepsy
(genetics, physiopathology)
- Evoked Potentials, Somatosensory
(physiology)
- Female
- Humans
- Infant
- Mutation
(genetics)
- NAV1.1 Voltage-Gated Sodium Channel
(genetics)
- Reflex
(genetics)
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