Nicholas M Allen1, Judith Conroy2, Amre Shahwan3, Sean Ennis4, Bryan Lynch3, Sally A Lynch2, Mary D King5. 1. Department of Child Neurology & Clinical Neurophysiology, Children's University Hospital, Temple St., Dublin, Ireland. Electronic address: nickyallen79@hotmail.com. 2. Department of Genetics, Children's University Hospital, Temple St., Dublin, Ireland; Academic Center on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland. 3. Department of Child Neurology & Clinical Neurophysiology, Children's University Hospital, Temple St., Dublin, Ireland. 4. Academic Center on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland. 5. Department of Child Neurology & Clinical Neurophysiology, Children's University Hospital, Temple St., Dublin, Ireland; Academic Center on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.
Abstract
BACKGROUND: Severe early onset epilepsy may lead to impaired cognitive and motor development, and consists of a group of specific and overlapping electro-clinical phenotypes which may be the result of an inborn error of metabolism, congenital or acquired structural brain lesion, known chromosomal or mono-genetic disorder. A significant proportion of cases however remain unexplained, representing a major diagnostic and management challenge. METHODS: In this study we describe a cohort of children with severe early onset epilepsy and examine the clinical utility of chromosomal microarray (array-comparative genomic hybridisation, CGH) in this group of epilepsies. RESULTS: In 51 children with unexplained severe early onset epilepsy, all of whom had chromosomal array tested, copy number variants were detected in 17.6% and pathogenic variants in 5.9% of infants. CONCLUSIONS: Chromosomal microarray is a useful investigation in early onset refractory epilepsy and epileptic encephalopathy. Detailed review of the precise array abnormality and phenotypes associated are important for determining significance.
BACKGROUND: Severe early onset epilepsy may lead to impaired cognitive and motor development, and consists of a group of specific and overlapping electro-clinical phenotypes which may be the result of an inborn error of metabolism, congenital or acquired structural brain lesion, known chromosomal or mono-genetic disorder. A significant proportion of cases however remain unexplained, representing a major diagnostic and management challenge. METHODS: In this study we describe a cohort of children with severe early onset epilepsy and examine the clinical utility of chromosomal microarray (array-comparative genomic hybridisation, CGH) in this group of epilepsies. RESULTS: In 51 children with unexplained severe early onset epilepsy, all of whom had chromosomal array tested, copy number variants were detected in 17.6% and pathogenic variants in 5.9% of infants. CONCLUSIONS: Chromosomal microarray is a useful investigation in early onset refractory epilepsy and epilepticencephalopathy. Detailed review of the precise array abnormality and phenotypes associated are important for determining significance.
Authors: Katherine B Howell; Stefanie Eggers; Kim Dalziel; Jessica Riseley; Simone Mandelstam; Candace T Myers; Jacinta M McMahon; Amy Schneider; Gemma L Carvill; Heather C Mefford; Ingrid E Scheffer; A Simon Harvey Journal: Epilepsia Date: 2018-05-11 Impact factor: 5.864
Authors: Antonietta Coppola; Elena Cellini; Hannah Stamberger; Elmo Saarentaus; Valentina Cetica; Dennis Lal; Tania Djémié; Magdalena Bartnik-Glaska; Berten Ceulemans; J Helen Cross; Tine Deconinck; Salvatore De Masi; Thomas Dorn; Renzo Guerrini; Dorotha Hoffman-Zacharska; Frank Kooy; Lieven Lagae; Nicholas Lench; Johannes R Lemke; Ersilia Lucenteforte; Francesca Madia; Heather C Mefford; Deborah Morrogh; Peter Nuernberg; Aarno Palotie; An-Sofie Schoonjans; Pasquale Striano; Elzbieta Szczepanik; Anna Tostevin; Joris R Vermeesch; Hilde Van Esch; Wim Van Paesschen; Jonathan J Waters; Sarah Weckhuysen; Federico Zara; Peter De Jonghe; Sanjay M Sisodiya; Carla Marini Journal: Epilepsia Date: 2019-03-13 Impact factor: 5.864
Authors: Betsy E P Ostrander; Russell J Butterfield; Brent S Pedersen; Andrew J Farrell; Ryan M Layer; Alistair Ward; Chase Miller; Tonya DiSera; Francis M Filloux; Meghan S Candee; Tara Newcomb; Joshua L Bonkowsky; Gabor T Marth; Aaron R Quinlan Journal: NPJ Genom Med Date: 2018-08-13 Impact factor: 8.617