Epilepsie en het SCN1A-gen

N. Dekker; M. J.A. Van Kempen; D. Lindhout; O. Van Nieuwenhuizen; E. H. Brilstra

doi:10.1007/BF03078214

Epilepsie en het SCN1A-gen

Translated title of the contribution: Epilepsy and the SCN1A gene

N. Dekker, M. J.A. Van Kempen, D. Lindhout, O. Van Nieuwenhuizen, E. H. Brilstra

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Mutations in the voltage-gated sodium channel subunit gene, SCN1A, are identified predominantly in patients with severe myoclonic epilepsy of infancy (SMEI) and in families with generalized epilepsy with febrile seizures plus (GEFS+). Patients with SMEI have predominantly truncating mutations or missense mutations in functionally important segments of the ion channel. In GEFS+ families predominantly missense mutations are found. The finding of a pathogenic SCN1A mutation may have consequences for the anti-epileptic treatment, helps to avoid further diagnostic procedures and provides information on the recurrence risk for siblings and other relatives.

Translated title of the contribution	Epilepsy and the SCN1A gene
Original language	Dutch
Pages (from-to)	254-258
Number of pages	5
Journal	Tijdschrift voor Kindergeneeskunde
Volume	76
Issue number	5
DOIs	https://doi.org/10.1007/BF03078214
Publication status	Published - 1 Jan 2008

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abstract = "Mutations in the voltage-gated sodium channel subunit gene, SCN1A, are identified predominantly in patients with severe myoclonic epilepsy of infancy (SMEI) and in families with generalized epilepsy with febrile seizures plus (GEFS+). Patients with SMEI have predominantly truncating mutations or missense mutations in functionally important segments of the ion channel. In GEFS+ families predominantly missense mutations are found. The finding of a pathogenic SCN1A mutation may have consequences for the anti-epileptic treatment, helps to avoid further diagnostic procedures and provides information on the recurrence risk for siblings and other relatives.",

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AU - Van Kempen, M. J.A.

AU - Lindhout, D.

AU - Van Nieuwenhuizen, O.

AU - Brilstra, E. H.

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AB - Mutations in the voltage-gated sodium channel subunit gene, SCN1A, are identified predominantly in patients with severe myoclonic epilepsy of infancy (SMEI) and in families with generalized epilepsy with febrile seizures plus (GEFS+). Patients with SMEI have predominantly truncating mutations or missense mutations in functionally important segments of the ion channel. In GEFS+ families predominantly missense mutations are found. The finding of a pathogenic SCN1A mutation may have consequences for the anti-epileptic treatment, helps to avoid further diagnostic procedures and provides information on the recurrence risk for siblings and other relatives.

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JO - Tijdschrift voor Kindergeneeskunde

JF - Tijdschrift voor Kindergeneeskunde

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Epilepsie en het SCN1A-gen

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