Consensus recommendations on Epilepsy in Phelan-McDermid syndrome

I.F.M. de Coo; S. Jesse; T.L. Le; C. Sala; European Phelan-McDermid Syndrome Consortium

doi:10.1016/j.ejmg.2023.104746

Consensus recommendations on Epilepsy in Phelan-McDermid syndrome

I.F.M. de Coo^*, S. Jesse, T.L. Le, C. Sala, European Phelan-McDermid Syndrome Consortium

^*Corresponding author for this work

Research output: Contribution to journal › (Systematic) Review article › peer-review

Abstract

Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities like seizures. The epilepsy manifests itself in a variety of seizure semiologies. Further diagnostics using electroencephalogram (EEG) and brain magnetic resonance imaging (MRI) are important in conjunction with the clinical picture of the seizures to decide whether anticonvulsant therapy is necessary. As part of the development of European consensus guidelines we focussed on the prevalence and semiology of epileptic seizures in PMS associated with a pathogenic variant in the SHANK3 gene or the 22q13 deletion involving SHANK3, in order to then be able to make recommendations regarding diagnosis and therapy.

Original language	English
Article number	104746
Number of pages	4
Journal	European Journal of Medical Genetics
Volume	66
Issue number	6
DOIs	https://doi.org/10.1016/j.ejmg.2023.104746
Publication status	Published - 1 Jun 2023

Keywords

Phelan-McDermid syndrome
Epilepsy
Regression
Electroencephalogram
Brain-MRI
DELETION
SEIZURES

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10.1016/j.ejmg.2023.104746Licence: CC BY-NC-ND

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abstract = "Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities like seizures. The epilepsy manifests itself in a variety of seizure semiologies. Further diagnostics using electroencephalogram (EEG) and brain magnetic resonance imaging (MRI) are important in conjunction with the clinical picture of the seizures to decide whether anticonvulsant therapy is necessary. As part of the development of European consensus guidelines we focussed on the prevalence and semiology of epileptic seizures in PMS associated with a pathogenic variant in the SHANK3 gene or the 22q13 deletion involving SHANK3, in order to then be able to make recommendations regarding diagnosis and therapy.",

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note = "Funding Information: ERN-ITHACA is partly co-funded by the Health Programme of the European Union . This work was funded by Institut Pasteur , the Bettencourt-Schueller Foundation , Universit{\'e} Paris Cit{\'e}, the Eranet-Neuron (ALTRUISM) , the GenMed Labex , and the Inception program (Investissement d{\textquoteright}Avenir grant ANR-16-CONV-0005). This project received funding from the European Union's Horizon 2020 research and innovation programmes under CANDY grant agreement N° 847818 and under the EJP RD COFUND-EJP N° 825575. Funding Information: This project has been supported by European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA) . Publisher Copyright: {\textcopyright} 2023 The Authors",

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AU - European Phelan-McDermid Syndrome Consortium

N1 - Funding Information: ERN-ITHACA is partly co-funded by the Health Programme of the European Union . This work was funded by Institut Pasteur , the Bettencourt-Schueller Foundation , Université Paris Cité, the Eranet-Neuron (ALTRUISM) , the GenMed Labex , and the Inception program (Investissement d’Avenir grant ANR-16-CONV-0005). This project received funding from the European Union's Horizon 2020 research and innovation programmes under CANDY grant agreement N° 847818 and under the EJP RD COFUND-EJP N° 825575. Funding Information: This project has been supported by European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA) . Publisher Copyright: © 2023 The Authors

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N2 - Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities like seizures. The epilepsy manifests itself in a variety of seizure semiologies. Further diagnostics using electroencephalogram (EEG) and brain magnetic resonance imaging (MRI) are important in conjunction with the clinical picture of the seizures to decide whether anticonvulsant therapy is necessary. As part of the development of European consensus guidelines we focussed on the prevalence and semiology of epileptic seizures in PMS associated with a pathogenic variant in the SHANK3 gene or the 22q13 deletion involving SHANK3, in order to then be able to make recommendations regarding diagnosis and therapy.

AB - Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities like seizures. The epilepsy manifests itself in a variety of seizure semiologies. Further diagnostics using electroencephalogram (EEG) and brain magnetic resonance imaging (MRI) are important in conjunction with the clinical picture of the seizures to decide whether anticonvulsant therapy is necessary. As part of the development of European consensus guidelines we focussed on the prevalence and semiology of epileptic seizures in PMS associated with a pathogenic variant in the SHANK3 gene or the 22q13 deletion involving SHANK3, in order to then be able to make recommendations regarding diagnosis and therapy.

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KW - Regression

KW - Electroencephalogram

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KW - DELETION

KW - SEIZURES

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M3 - (Systematic) Review article

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JF - European Journal of Medical Genetics

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Consensus recommendations on Epilepsy in Phelan-McDermid syndrome

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Keywords

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