Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/25528
Title: Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants.
Austin Authors: Alawadhi, Abdulla;Morgan, Angela T;Mucha, Bettina E;Scheffer, Ingrid E ;Myers, Kenneth A
Affiliation: Division of Child Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada
Speech and Language, Murdoch Children's Research Institute, Royal Children's Hospital, Flemington, Victoria, Australia
Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Flemington, Victoria, Australia
Epilepsy Research Centre
The Florey Institute of Neuroscience and Mental Health and Murdoch Children's Research Institute, Melbourne, Victoria, Australia
Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada
Division of Child Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada
Department of Neurology & Neurosurgery, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada
Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada
Issue Date: Jan-2021
Date: 2020-12-24
Publication information: European Journal of Paediatric Neurology : EJPN 2020; 30: 25-28
Abstract: Heterozygous pathogenic WAC variants cause Desanto-Shinawi syndrome; affected patients have dysmorphic features, developmental impairment and behavioral abnormalities. Seizures are reported in one quarter, including tonic-clonic, absence, and febrile seizures. This study aimed to better understand the phenotypic spectrum of epilepsy and development in Desanto-Shinawi syndrome. We identified four children with seizures and pathogenic WAC variants, including two siblings. All had global developmental impairment with language affected most severely; two had diagnoses of childhood apraxia of speech and two had autism spectrum disorder. Seizure onset age ranged from six months to 14 years. Seizures always occurred from sleep and were focal impaired awareness with motor features in three patients, with one having bilateral tonic-clonic seizures of suspected focal onset. Two patients had spontaneous seizure resolution without treatment, and the remaining two were well-controlled on monotherapy. EEG was normal in two patients; one had focal right frontal spikes in drowsiness and sleep while the last had independent centrotemporal spikes from both hemispheres, activated in sleep. All patients had heterozygous truncating pathogenic WAC variants, with negative parental testing. The findings in this cohort of patients suggest that epilepsy in Desanto-Shinawi syndrome is usually focal and self-limited, and may fall within the epilepsy-aphasia spectrum.
URI: https://ahro.austin.org.au/austinjspui/handle/1/25528
DOI: 10.1016/j.ejpn.2020.12.010
Journal: European Journal of Paediatric Neurology : EJPN
PubMed URL: 33387902
Type: Journal Article
Subjects: Childhood apraxia of speech
Desanto-shinawi syndrome
Epilepsy-aphasia spectrum
Self-limited focal epilepsy of childhood
WAC
Appears in Collections:Journal articles

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