Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/19167
Title: Epilepsy in KCNH1-related syndromes.
Austin Authors: Mastrangelo, Mario;Scheffer, Ingrid E ;Bramswig, Nuria C;Nair, Lal D V;Myers, Candace T;Dentici, Maria Lisa;Korenke, Georg C;Schoch, Kelly;Campeau, Philippe M;White, Susan M;Shashi, Vandana;Kansagra, Sujay;Van Essen, Anthonie J;Leuzzi, Vincenzo
Affiliation: Department of Pediatrics, University of Washington, Seattle, WA, USA
Department of Genetics, University of Groningen, University Medical Center Groningen, The Netherlands
Department of Pediatrics, University of Montreal, Montreal, Canada
Department of Pediatrics, Saveetha Medical College, Chennai, India
Florey Institute and University of Melbourne, Melbourne, Australia
Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany
Klinik für Neuropädiatrie, Klinikum Oldenburg, Germany
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia, Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
Pediatric Neurology Division Department of Pediatrics, Child Neurology and Psychiatry, Sapienza-University of Rome, Rome, Italy
Bambino Gesù Children Hospital, Rome, Italy
Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, USA
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, USA
Royal Children's Hospital, Melbourne, Australia
Austin Health, Heidelberg, Victoria, Australia
Issue Date: 1-Jun-2016
Publication information: Epileptic disorders : international epilepsy journal with videotape 2016; 18(2): 123-36
Abstract: KCNH1 mutations have been identified in patients with Zimmermann-Laband syndrome and Temple-Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic facial features, nail hypo/aplasia, thumb and skeletal anomalies, intellectual disability, and seizures. We report the epilepsy phenotype in patients with KCNH1 mutations. Demographic data, electroclinical features, response to antiepileptic drugs, and results of significant diagnostic investigations of nine patients carrying mutations in KCNH1 were obtained from referring centres. Epilepsy was present in 7/9 patients. Both generalized and focal tonic-clonic seizures were observed. Complete seizure control was achieved with pharmacological treatment in 2/7 patients; polytherapy was required in 4/7 patients. Status epilepticus occurred in 4/7 patients. EEG showed a diffusely slow background in 7/7 patients with epilepsy, with variable epileptiform abnormalities. Cerebral folate deficiency and an increase in urinary hypoxanthine and uridine were observed in one patient. Epilepsy is a key phenotypic feature in most individuals with KCNH1-related syndromes, suggesting a direct role of KCNH1 in epileptogenesis, although the underlying mechanism is not understood.
URI: http://ahro.austin.org.au/austinjspui/handle/1/19167
DOI: 10.1684/epd.2016.0830
ORCID: 0000-0002-2311-2174
PubMed URL: 27267311
Type: Journal Article
Subjects: KCNH1-related encephalopathy
Temple-Baraitser syndrome
Zimmermann-Laband syndrome
genetic epilepsy
undefined intellectual disability
Appears in Collections:Journal articles

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