Please use this identifier to cite or link to this item:
Title: Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.
Austin Authors: Myers, Kenneth A;Marini, Carla;Carvill, Gemma L;McTague, Amy;Panetta, Julie;Stutterd, Chloe A ;Stanley, Thorsten;Marin, Samantha;Nguyen, John;Barba, Carmen;Rosati, Anna;Scott, Richard H;Mefford, Heather C;Guerrini, Renzo;Scheffer, Ingrid E 
Affiliation: The Florey Institute of Neuroscience and Mental Health
Child Neurology and Psychiatry, Salesi Pediatric Hospital, United Hospitals of Ancona, Ancona, Italy
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA
Department of Neurology, Great Ormond Street Hospital for Children, London, UK
Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health, London, UK
Neurology Network Melbourne, Melbourne, Victoria, Australia
Murdoch Children's Research Institute, Parkville, Victoria, Australia
Department of Paediatrics and Child Health, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand
Division of Neurology, Department of Pediatrics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada
Neurology Unit and Neurogenetic Laboratories, Meyer Children's Hospital, Florence, Italy
Department of Clinical Genetics, Great Ormond Street Hospital, London, UK
Epilepsy Research Centre
Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Parkville, Victoria, Australia
Research Institute of the McGill University Health Centre, Montreal, PQ
Division of Child Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, PQ
Department of Neurology & Neurosurgery, Montreal Children's Hospital, McGill University, Montreal, PQ
Medicine (University of Melbourne)
Issue Date: Apr-2021 2021-03-18
Publication information: Neurology. Genetics 2021; 7(2): e579
Abstract: To describe the phenotypic spectrum in patients with MBD5-associated neurodevelopmental disorder (MAND) and seizures; features of MAND include intellectual disability, epilepsy, psychiatric features of aggression and hyperactivity, and dysmorphic features including short stature and microcephaly, sleep disturbance, and ataxia. We performed phenotyping on patients with MBD5 deletions, duplications, or point mutations and a history of seizures. Twenty-three patients with MAND and seizures were included. Median seizure onset age was 2.9 years (range 3 days-13 years). The most common seizure type was generalized tonic-clonic; focal, atypical absence, tonic, drop attacks, and myoclonic seizures occurred frequently. Seven children had convulsive status epilepticus and 3 nonconvulsive status epilepticus. Fever, viral illnesses, and hot weather provoked seizures. EEG studies in 17/21 patients were abnormal, typically showing slow generalized spike-wave and background slowing. Nine had drug-resistant epilepsy, although 3 eventually became seizure-free. All but one had moderate-to-severe developmental impairment. Epilepsy syndromes included Lennox-Gastaut syndrome, myoclonic-atonic epilepsy, and infantile spasms syndrome. Behavioral problems in 20/23 included aggression, self-injurious behavior, and sleep disturbance. MBD5 disruption may be associated with severe early childhood-onset developmental and epileptic encephalopathy. Because neuropsychiatric dysfunction is common and severe, it should be an important focus of clinical management.
DOI: 10.1212/NXG.0000000000000579
ORCID: 0000-0001-7831-4593
Journal: Neurology. Genetics
PubMed URL: 33912662
ISSN: 2376-7839
Type: Journal Article
Appears in Collections:Journal articles

Show full item record

Page view(s)

checked on May 26, 2023

Google ScholarTM


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.