Nuova mutazione missense de novo del gene SCN1A: Descrizione di un caso clinico associato a epilessia GEFS plus con prognosi benigna

G. De Polo; A. Liava; A. Martinuzzi; E. Frate; E. Gennaro

Nuova mutazione missense de novo del gene SCN1A: Descrizione di un caso clinico associato a epilessia GEFS plus con prognosi benigna

Translated title of the contribution: De novo missense mutation in SCN1A: A case report of GEFS plus with good prognosis

G. De Polo, A. Liava, A. Martinuzzi, E. Frate, E. Gennaro

Istituto "Eugenio Medea" - Associazione La Nostra Famiglia

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

Abstract

We describe the case of a child with a de novo missense mutation in the "pore region" - α subunit of SCN1A (brain voltage gated sodium channel α1 subunit gene). The neurological and EEG evolution shows a clinical situation in between GEFS + and SMEI, that could be better termed as Autosomal Dominant Epilepsy with Febrile Seizures Plus (ADEFS+) (1) or Severe Myoclonic Epilepsy Borderline (SMEI Borderline).

Translated title of the contribution	De novo missense mutation in SCN1A: A case report of GEFS plus with good prognosis
Original language	Italian
Pages (from-to)	151-154
Number of pages	4
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	129-130
Publication status	Published - 2005

ASJC Scopus subject areas

Clinical Neurology

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Cite this

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title = "Nuova mutazione missense de novo del gene SCN1A: Descrizione di un caso clinico associato a epilessia GEFS plus con prognosi benigna",

abstract = "We describe the case of a child with a de novo missense mutation in the {"}pore region{"} - α subunit of SCN1A (brain voltage gated sodium channel α1 subunit gene). The neurological and EEG evolution shows a clinical situation in between GEFS + and SMEI, that could be better termed as Autosomal Dominant Epilepsy with Febrile Seizures Plus (ADEFS+) (1) or Severe Myoclonic Epilepsy Borderline (SMEI Borderline).",

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author = "{De Polo}, G. and A. Liava and A. Martinuzzi and E. Frate and E. Gennaro",

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T2 - Descrizione di un caso clinico associato a epilessia GEFS plus con prognosi benigna

AU - De Polo, G.

AU - Liava, A.

AU - Martinuzzi, A.

AU - Frate, E.

AU - Gennaro, E.

PY - 2005

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N2 - We describe the case of a child with a de novo missense mutation in the "pore region" - α subunit of SCN1A (brain voltage gated sodium channel α1 subunit gene). The neurological and EEG evolution shows a clinical situation in between GEFS + and SMEI, that could be better termed as Autosomal Dominant Epilepsy with Febrile Seizures Plus (ADEFS+) (1) or Severe Myoclonic Epilepsy Borderline (SMEI Borderline).

AB - We describe the case of a child with a de novo missense mutation in the "pore region" - α subunit of SCN1A (brain voltage gated sodium channel α1 subunit gene). The neurological and EEG evolution shows a clinical situation in between GEFS + and SMEI, that could be better termed as Autosomal Dominant Epilepsy with Febrile Seizures Plus (ADEFS+) (1) or Severe Myoclonic Epilepsy Borderline (SMEI Borderline).

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KW - SMEI

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