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Comment
. 2023 May;64(5):1348-1350.
doi: 10.1111/epi.17562. Epub 2023 Mar 20.

The fascinating phenotypic spectrum of SCN1A gain-of-function epilepsies

Ingrid E Scheffer  1
Affiliations
Comment

The fascinating phenotypic spectrum of SCN1A gain-of-function epilepsies

Ingrid E Scheffer. Epilepsia. 2023 May.
No abstract available

Keywords: SCN1A; epilepsy; gain of function; phenotypic spectrum.

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References

REFERENCES

    1. Zhang YH, Burgess R, Malone JP, Glubb GC, Helbig KL, Vadlamudi L, et al. Genetic epilepsy with febrile seizures plus: refining the spectrum. Neurology. 2017;89(12):1210-9.
    1. Scheffer IE, Nabbout R. SCN1A-related phenotypes: epilepsy and beyond. Epilepsia. 2019;60(Suppl 3):S17-24.
    1. Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C, et al. Not all SCN1A epileptic encephalopathies are Dravet syndrome: early profound Thr226Met phenotype. Neurology. 2017;89(10):1035-42.
    1. Berecki G, Bryson A, Terhag J, Maljevic S, Gazina EV, Hill SL, et al. SCN1A gain of function in early infantile encephalopathy. Ann Neurol. 2019;85(4):514-25.
    1. Brunklaus A, Brunger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, et al. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain. 2022;145(11):3816-31.

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