Two mild cases of Dravet syndrome with truncating mutation of SCN1A

Abstract Background SCN1A is the gene that codes for the neuronal voltage-gated sodium-channel alpha-subunit 1. It is generally considered that an SCN1A truncating mutation causes the severe phenotype of Dravet syndrome. Patients We describe 11- and 4-year-old male patients presenting with mild Drav...

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Bibliographic Details
Published in:Brain & development (Tokyo. 1979) 2017-01, Vol.39 (1), p.72-74
Main Authors: Takaori, Toru, Kumakura, Akira, Ishii, Atsushi, Hirose, Shinichi, Hata, Daisuke
Format: Article
Language:English
Subjects:
Anticonvulsants - therapeutic use
Child
Child, Preschool
DNA Mutational Analysis
Dravet syndrome
Epilepsies, Myoclonic - drug therapy
Epilepsies, Myoclonic - genetics
Humans
Male
Mild phenotype
NAV1.1 Voltage-Gated Sodium Channel - genetics
Neurology
Phenotype
SCN1A truncating mutation
Sequence Deletion
Severity of Illness Index
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Summary:Abstract Background SCN1A is the gene that codes for the neuronal voltage-gated sodium-channel alpha-subunit 1. It is generally considered that an SCN1A truncating mutation causes the severe phenotype of Dravet syndrome. Patients We describe 11- and 4-year-old male patients presenting with mild Dravet syndrome with a truncating mutation of SCN1A . The former patient showed moderate mental retardation; however, seizure was controlled to almost one incident a year by levetiracetam and topiramate. Carbamazepine was also effective, which is atypical of Dravet syndrome. The latter patient showed a borderline developmental quotient and did not have episodes of afebrile seizure. Conclusion Two patients presented with mild Dravet syndrome, even though they had a truncating mutation of SCN1A . Not all truncating mutations of SCN1A cause the severe phenotype of Dravet syndrome.
ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2016.07.006