TY - JOUR
T1 - Consensus recommendations on Epilepsy in Phelan-McDermid syndrome
AU - de Coo, I.F.M.
AU - Jesse, S.
AU - Le, T.L.
AU - Sala, C.
AU - European, Phelan-McDermid
AU - European Phelan-McDermid Syndrome Consortium
PY - 2023/6/1
Y1 - 2023/6/1
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.
KW - Phelan-McDermid syndrome
KW - Epilepsy
KW - Regression
KW - Electroencephalogram
KW - Brain-MRI
KW - DELETION
KW - SEIZURES
U2 - 10.1016/j.ejmg.2023.104746
DO - 10.1016/j.ejmg.2023.104746
M3 - (Systematic) Review article
C2 - 36967043
SN - 1769-7212
VL - 66
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 6
M1 - 104746
ER -