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Article: The epileptology of GNB5 encephalopathy

TitleThe epileptology of GNB5 encephalopathy
Authors
Keywordsdevelopmental and epileptic encephalopathy
epilepsy
GNB5
intellectual disability
recessive
Issue Date2019
PublisherWiley-Blackwell Publishing, Inc.. The Journal's web site is located at http://www.epilepsia.com/
Citation
Epilepsia, 2019, v. 60 n. 11, p. e121-e127 How to Cite?
AbstractPathogenic variants in GNB5 cause an autosomal recessive neurodevelopmental disorder with neonatal sinus bradycardia. Seizures or epilepsy occurred in 10 of 22 previously reported cases, including 6 children from one family. We delineate the epileptology of GNB5 encephalopathy. Our nine patients, including five new patients, were from seven families. Epileptic spasms were the most frequent seizure type, occurring in eight of nine patients, and began at a median age of 3 months (2 months to 3 years). Focal seizures preceded spasms in three children, with onset at 7 days, 11 days, and 4 months. One child presented with convulsive status epilepticus at 6 months. Three children had burst suppression on electroencephalography (EEG), three had hypsarrhythmia, and one evolved from burst suppression to hypsarrhythmia. Background slowing was present in all after age 3 years. Magnetic resonance imaging (MRI) showed cerebral atrophy in one child and cerebellar atrophy in another. All nine had abnormal development prior to seizure onset and ultimately had profound impairment without regression. Hypotonia was present in all, with contractures developing in two older patients. All individuals had biallelic pathogenic variants in GNB5, predicted by in silico tools to result in protein truncation and loss‐of‐function. GNB5 developmental and epileptic encephalopathy is characterized by epileptic spasms, focal seizures, and profound impairment.
Persistent Identifierhttp://hdl.handle.net/10722/281234
ISSN
2020 Impact Factor: 5.864
2015 SCImago Journal Rankings: 2.579
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorPoke, G-
dc.contributor.authorKing, C-
dc.contributor.authorMuir, A-
dc.contributor.authorde Valles-Ibariez, G-
dc.contributor.authorGermano, M-
dc.contributor.authorMoura de Souza, CF-
dc.contributor.authorFung, J-
dc.contributor.authorChung, B-
dc.contributor.authorFung, CW-
dc.contributor.authorMignot, C-
dc.contributor.authorIlea, A-
dc.contributor.authorKeren, B-
dc.contributor.authorVermersch, AI-
dc.contributor.authorDavis, S-
dc.contributor.authorStanley, T-
dc.contributor.authorMoharir, M-
dc.contributor.authorKannu, P-
dc.contributor.authorShao, Z-
dc.contributor.authorMalerba, N-
dc.contributor.authorMerla, G-
dc.contributor.authorMefford, HC-
dc.contributor.authorScheffer, IE-
dc.contributor.authorSadleir, LG-
dc.date.accessioned2020-03-09T09:51:56Z-
dc.date.available2020-03-09T09:51:56Z-
dc.date.issued2019-
dc.identifier.citationEpilepsia, 2019, v. 60 n. 11, p. e121-e127-
dc.identifier.issn0013-9580-
dc.identifier.urihttp://hdl.handle.net/10722/281234-
dc.description.abstractPathogenic variants in GNB5 cause an autosomal recessive neurodevelopmental disorder with neonatal sinus bradycardia. Seizures or epilepsy occurred in 10 of 22 previously reported cases, including 6 children from one family. We delineate the epileptology of GNB5 encephalopathy. Our nine patients, including five new patients, were from seven families. Epileptic spasms were the most frequent seizure type, occurring in eight of nine patients, and began at a median age of 3 months (2 months to 3 years). Focal seizures preceded spasms in three children, with onset at 7 days, 11 days, and 4 months. One child presented with convulsive status epilepticus at 6 months. Three children had burst suppression on electroencephalography (EEG), three had hypsarrhythmia, and one evolved from burst suppression to hypsarrhythmia. Background slowing was present in all after age 3 years. Magnetic resonance imaging (MRI) showed cerebral atrophy in one child and cerebellar atrophy in another. All nine had abnormal development prior to seizure onset and ultimately had profound impairment without regression. Hypotonia was present in all, with contractures developing in two older patients. All individuals had biallelic pathogenic variants in GNB5, predicted by in silico tools to result in protein truncation and loss‐of‐function. GNB5 developmental and epileptic encephalopathy is characterized by epileptic spasms, focal seizures, and profound impairment.-
dc.languageeng-
dc.publisherWiley-Blackwell Publishing, Inc.. The Journal's web site is located at http://www.epilepsia.com/-
dc.relation.ispartofEpilepsia-
dc.rightsPreprint This is the pre-peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. Postprint This is the peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article using the DOI]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.-
dc.subjectdevelopmental and epileptic encephalopathy-
dc.subjectepilepsy-
dc.subjectGNB5-
dc.subjectintellectual disability-
dc.subjectrecessive-
dc.titleThe epileptology of GNB5 encephalopathy-
dc.typeArticle-
dc.identifier.emailFung, J: jasflf@connect.hku.hk-
dc.identifier.emailChung, B: bhychung@hku.hk-
dc.identifier.emailFung, CW: fcw1209m@HKUCC-COM.hku.hk-
dc.identifier.authorityChung, B=rp00473-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1111/epi.16372-
dc.identifier.pmid31631344-
dc.identifier.scopuseid_2-s2.0-85074359859-
dc.identifier.hkuros309272-
dc.identifier.volume60-
dc.identifier.issue11-
dc.identifier.spagee121-
dc.identifier.epagee127-
dc.identifier.isiWOS:000491456500001-
dc.publisher.placeUnited States-
dc.identifier.issnl0013-9580-

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