TY - JOUR
T1 - Electroclinical Features in MECP2 Duplication Syndrome
T2 - Pediatric Case Series
AU - Lorenzo, Jocelyn
AU - Dolce, Alison
AU - Lowden, Andrea
N1 - Publisher Copyright:
© The Author(s) 2021.
PY - 2021/10
Y1 - 2021/10
N2 - Objective: MECP2 duplication syndrome (MECP2DS) is an x-linked recessive syndrome characterized by infantile hypotonia, severe neurodevelopmental delay, intellectual disability, progressive spasticity, recurrent infections, and seizures. More than 50% of cases have been associated with epilepsy. Seizure semiology and electroencephalogram (EEG) findings in these patients are poorly described. Methods: In this case series, the authors describe the electroclinical features of children with MECP2DS presenting to their institution. In addition, they reviewed seizure types and therapies used. Results: Eight out of 9 patients with MECP2DS developed epilepsy, with 56% having normal initial EEG. Generalized slowing with generalized and focal/multifocal discharges was the most common EEG pattern which is consistent with prior studies. Atonic seizure was the most common semiology. Majority were pharmacoresistant (63%). Conclusion: The goal of this case series is to better define the clinical and electrophysiological aspects of the epilepsy associated with MECP2 duplication syndrome and provide practical guidance regarding management.
AB - Objective: MECP2 duplication syndrome (MECP2DS) is an x-linked recessive syndrome characterized by infantile hypotonia, severe neurodevelopmental delay, intellectual disability, progressive spasticity, recurrent infections, and seizures. More than 50% of cases have been associated with epilepsy. Seizure semiology and electroencephalogram (EEG) findings in these patients are poorly described. Methods: In this case series, the authors describe the electroclinical features of children with MECP2DS presenting to their institution. In addition, they reviewed seizure types and therapies used. Results: Eight out of 9 patients with MECP2DS developed epilepsy, with 56% having normal initial EEG. Generalized slowing with generalized and focal/multifocal discharges was the most common EEG pattern which is consistent with prior studies. Atonic seizure was the most common semiology. Majority were pharmacoresistant (63%). Conclusion: The goal of this case series is to better define the clinical and electrophysiological aspects of the epilepsy associated with MECP2 duplication syndrome and provide practical guidance regarding management.
KW - EEG
KW - epilepsy
KW - MECP2 duplication syndrome
KW - MECP2DS
KW - seizures
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U2 - 10.1177/08830738211030804
DO - 10.1177/08830738211030804
M3 - Article
C2 - 34486423
AN - SCOPUS:85114389011
SN - 0883-0738
VL - 36
SP - 1086
EP - 1094
JO - Journal of child neurology
JF - Journal of child neurology
IS - 12
ER -