Unusual combination of epilepsy phenotypes and a SCNM1 mutation in a three - generational family: photosensitivity, persistent at high age, and talking induced myoclonic jaw- jerks

T.G.A. Kasteleijn-Nolst Trenité; H. Schippers; W. Perquin; G. de Haan; C.G.F. de Kovel; G. Capovilla; B. Jocic-Jakubi; A. Covanis; M. Brinciotti; B. Baykan; P. Parisi; E.H. Brilstra; A.J. Bader; B.P.C. Koeleman

Unusual combination of epilepsy phenotypes and a SCNM1 mutation in a three - generational family: photosensitivity, persistent at high age, and talking induced myoclonic jaw- jerks

Translated title of the contribution: Unusual combination of epilepsy phenotypes and a SCNM1 mutation in a three - generational family: photosensitivity, persistent at high age, and talking induced myoclonic jaw- jerks

T.G.A. Kasteleijn-Nolst Trenité
, H. Schippers
, W. Perquin
, G. de Haan
, C.G.F. de Kovel
, G. Capovilla
, B. Jocic-Jakubi
, A. Covanis
, M. Brinciotti
, B. Baykan
, P. Parisi
, E.H. Brilstra
, A.J. Bader
, B.P.C. Koeleman

Research output: Contribution to conference › Poster › Other research output

Translated title of the contribution	Unusual combination of epilepsy phenotypes and a SCNM1 mutation in a three - generational family: photosensitivity, persistent at high age, and talking induced myoclonic jaw- jerks
Original language	Undefined/Unknown
Publication status	Published - 8 Jun 2013
Event	ESHG conferentie - Parijs Duration: 8 Jun 2013 → 11 Jun 2013

Conference

Conference	ESHG conferentie
City	Parijs
Period	8/06/13 → 11/06/13

Keywords

Econometric and Statistical Methods: General
Geneeskunde (GENK)
Geneeskunde(GENK)
Medical sciences
Bescherming en bevordering van de menselijke gezondheid

Cite this

Kasteleijn-Nolst Trenité, T. G. A., Schippers, H., Perquin, W., de Haan, G., de Kovel, C. G. F., Capovilla, G., Jocic-Jakubi, B., Covanis, A., Brinciotti, M., Baykan, B., Parisi, P., Brilstra, E. H., Bader, A. J., & Koeleman, B. P. C. (2013). Unusual combination of epilepsy phenotypes and a SCNM1 mutation in a three - generational family: photosensitivity, persistent at high age, and talking induced myoclonic jaw- jerks. Poster session presented at ESHG conferentie, Parijs.

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title = "Unusual combination of epilepsy phenotypes and a SCNM1 mutation in a three - generational family: photosensitivity, persistent at high age, and talking induced myoclonic jaw- jerks",

keywords = "Econometric and Statistical Methods: General, Geneeskunde (GENK), Geneeskunde(GENK), Medical sciences, Bescherming en bevordering van de menselijke gezondheid",

author = "\{Kasteleijn-Nolst Trenit{\'e}\}, T.G.A. and H. Schippers and W. Perquin and \{de Haan\}, G. and \{de Kovel\}, C.G.F. and G. Capovilla and B. Jocic-Jakubi and A. Covanis and M. Brinciotti and B. Baykan and P. Parisi and E.H. Brilstra and A.J. Bader and B.P.C. Koeleman",

note = "ESHG conferentie; ESHG conferentie ; Conference date: 08-06-2013 Through 11-06-2013",

year = "2013",

month = jun,

day = "8",

language = "Undefined/Unknown",

}

Kasteleijn-Nolst Trenité, TGA, Schippers, H, Perquin, W, de Haan, G, de Kovel, CGF, Capovilla, G, Jocic-Jakubi, B, Covanis, A, Brinciotti, M, Baykan, B, Parisi, P, Brilstra, EH, Bader, AJ & Koeleman, BPC 2013, 'Unusual combination of epilepsy phenotypes and a SCNM1 mutation in a three - generational family: photosensitivity, persistent at high age, and talking induced myoclonic jaw- jerks', ESHG conferentie, Parijs, 8/06/13 - 11/06/13.

Unusual combination of epilepsy phenotypes and a SCNM1 mutation in a three - generational family: photosensitivity, persistent at high age, and talking induced myoclonic jaw- jerks. / Kasteleijn-Nolst Trenité, T.G.A.; Schippers, H.; Perquin, W. et al.
2013. Poster session presented at ESHG conferentie, Parijs.

Research output: Contribution to conference › Poster › Other research output

TY - CONF

T1 - Unusual combination of epilepsy phenotypes and a SCNM1 mutation in a three - generational family: photosensitivity, persistent at high age, and talking induced myoclonic jaw- jerks

AU - Kasteleijn-Nolst Trenité, T.G.A.

AU - Schippers, H.

AU - Perquin, W.

AU - de Haan, G.

AU - de Kovel, C.G.F.

AU - Capovilla, G.

AU - Jocic-Jakubi, B.

AU - Covanis, A.

AU - Brinciotti, M.

AU - Baykan, B.

AU - Parisi, P.

AU - Brilstra, E.H.

AU - Bader, A.J.

AU - Koeleman, B.P.C.

N1 - ESHG conferentie

PY - 2013/6/8

Y1 - 2013/6/8

KW - Econometric and Statistical Methods: General

KW - Geneeskunde (GENK)

KW - Geneeskunde(GENK)

KW - Medical sciences

KW - Bescherming en bevordering van de menselijke gezondheid

M3 - Poster

T2 - ESHG conferentie

Y2 - 8 June 2013 through 11 June 2013

ER -