A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability

10.7554/eLife.32451

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Main Authors:	Chia, P.H, Zhong, F.L, Niwa, S, Bonnard, C, Utami, K.H, Zeng, R, Lee, H, Eskin, A, Nelson, S.F, Xie, W.H, Al-Tawalbeh, S, El-Khateeb, M, Shboul, M, Pouladi, M.A, Al-Raqad, M, Reversade, B
Other Authors:	MEDICINE
Format:	Article
Published:	2020
Subjects:	calcium calmodulin dependent protein kinase II histone protein protein unc 43 tyrosine unclassified drug CAMK2A protein, human animal experiment animal model Article Caenorhabditis elegans case report chromosome 5q clinical article consanguineous marriage controlled study convulsion developmental delay firing rate germline mutation growth disorder homozygote human human cell induced pluripotent stem cell intellectual impairment loss of function mutation missense mutation myoclonus seizure nonhuman protein function protein localization seizure synapse whole exome sequencing chromosome 5 consanguinity developmental disorder DNA sequence family health genetic linkage genetics Jordan Calcium-Calmodulin-Dependent Protein Kinase Type 2 Chromosomes, Human, Pair 5 Consanguinity Developmental Disabilities Family Health Genetic Linkage Homozygote Humans Intellectual Disability Loss of Function Mutation Mutation, Missense Seizures Sequence Analysis, DNA
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/177855
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-1778552024-05-08T09:51:20Z A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability Chia, P.H Zhong, F.L Niwa, S Bonnard, C Utami, K.H Zeng, R Lee, H Eskin, A Nelson, S.F Xie, W.H Al-Tawalbeh, S El-Khateeb, M Shboul, M Pouladi, M.A Al-Raqad, M Reversade, B MEDICINE PAEDIATRICS calcium calmodulin dependent protein kinase II histone protein protein unc 43 tyrosine unclassified drug calcium calmodulin dependent protein kinase II CAMK2A protein, human animal experiment animal model Article Caenorhabditis elegans case report chromosome 5q clinical article consanguineous marriage controlled study convulsion developmental delay firing rate germline mutation growth disorder homozygote human human cell induced pluripotent stem cell intellectual impairment loss of function mutation missense mutation myoclonus seizure nonhuman protein function protein localization seizure synapse whole exome sequencing chromosome 5 consanguinity developmental disorder DNA sequence family health genetic linkage genetics intellectual impairment Jordan seizure Calcium-Calmodulin-Dependent Protein Kinase Type 2 Chromosomes, Human, Pair 5 Consanguinity Developmental Disabilities Family Health Genetic Linkage Homozygote Humans Intellectual Disability Jordan Loss of Function Mutation Mutation, Missense Seizures Sequence Analysis, DNA 10.7554/eLife.32451 eLife 7 e32451 2020-10-20T03:34:15Z 2020-10-20T03:34:15Z 2018 Article Chia, P.H, Zhong, F.L, Niwa, S, Bonnard, C, Utami, K.H, Zeng, R, Lee, H, Eskin, A, Nelson, S.F, Xie, W.H, Al-Tawalbeh, S, El-Khateeb, M, Shboul, M, Pouladi, M.A, Al-Raqad, M, Reversade, B (2018). A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability. eLife 7 : e32451. ScholarBank@NUS Repository. https://doi.org/10.7554/eLife.32451 2050084X https://scholarbank.nus.edu.sg/handle/10635/177855 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Unpaywall 20201031
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	calcium calmodulin dependent protein kinase II histone protein protein unc 43 tyrosine unclassified drug calcium calmodulin dependent protein kinase II CAMK2A protein, human animal experiment animal model Article Caenorhabditis elegans case report chromosome 5q clinical article consanguineous marriage controlled study convulsion developmental delay firing rate germline mutation growth disorder homozygote human human cell induced pluripotent stem cell intellectual impairment loss of function mutation missense mutation myoclonus seizure nonhuman protein function protein localization seizure synapse whole exome sequencing chromosome 5 consanguinity developmental disorder DNA sequence family health genetic linkage genetics intellectual impairment Jordan seizure Calcium-Calmodulin-Dependent Protein Kinase Type 2 Chromosomes, Human, Pair 5 Consanguinity Developmental Disabilities Family Health Genetic Linkage Homozygote Humans Intellectual Disability Jordan Loss of Function Mutation Mutation, Missense Seizures Sequence Analysis, DNA
spellingShingle	calcium calmodulin dependent protein kinase II histone protein protein unc 43 tyrosine unclassified drug calcium calmodulin dependent protein kinase II CAMK2A protein, human animal experiment animal model Article Caenorhabditis elegans case report chromosome 5q clinical article consanguineous marriage controlled study convulsion developmental delay firing rate germline mutation growth disorder homozygote human human cell induced pluripotent stem cell intellectual impairment loss of function mutation missense mutation myoclonus seizure nonhuman protein function protein localization seizure synapse whole exome sequencing chromosome 5 consanguinity developmental disorder DNA sequence family health genetic linkage genetics intellectual impairment Jordan seizure Calcium-Calmodulin-Dependent Protein Kinase Type 2 Chromosomes, Human, Pair 5 Consanguinity Developmental Disabilities Family Health Genetic Linkage Homozygote Humans Intellectual Disability Jordan Loss of Function Mutation Mutation, Missense Seizures Sequence Analysis, DNA Chia, P.H Zhong, F.L Niwa, S Bonnard, C Utami, K.H Zeng, R Lee, H Eskin, A Nelson, S.F Xie, W.H Al-Tawalbeh, S El-Khateeb, M Shboul, M Pouladi, M.A Al-Raqad, M Reversade, B A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability
description	10.7554/eLife.32451
author2	MEDICINE
author_facet	MEDICINE Chia, P.H Zhong, F.L Niwa, S Bonnard, C Utami, K.H Zeng, R Lee, H Eskin, A Nelson, S.F Xie, W.H Al-Tawalbeh, S El-Khateeb, M Shboul, M Pouladi, M.A Al-Raqad, M Reversade, B
format	Article
author	Chia, P.H Zhong, F.L Niwa, S Bonnard, C Utami, K.H Zeng, R Lee, H Eskin, A Nelson, S.F Xie, W.H Al-Tawalbeh, S El-Khateeb, M Shboul, M Pouladi, M.A Al-Raqad, M Reversade, B
author_sort	Chia, P.H
title	A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability
title_short	A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability
title_full	A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability
title_fullStr	A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability
title_full_unstemmed	A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability
title_sort	homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/177855
_version_	1800914463361073152

A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability

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