MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
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MEF2 transcription factors: developmental regulators and emerging cancer genesAdvancing epilepsy genetics in the genomic eraDe novo mutations in SIK1 cause a spectrum of developmental epilepsies.MEF2C regulates cortical inhibitory and excitatory synapses and behaviors relevant to neurodevelopmental disorders.Different microRNA profiles in chronic epilepsy versus acute seizure mouse models.Autism spectrum disorder and epileptic encephalopathy: common causes, many questions.Refining analyses of copy number variation identifies specific genes associated with developmental delayEpilepsy and outcome in FOXG1-related disordersAutism spectrum disorder and epilepsy: Disorders with a shared biology.Interneuron development and epilepsy: early genetic defects cause long-term consequences in seizures and susceptibility.Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy.Immune mediators in the brain and peripheral tissues in autism spectrum disorder.Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Transcribing the connectome: roles for transcription factors and chromatin regulators in activity-dependent synapse development.Identification of 15 genetic loci associated with risk of major depression in individuals of European descent.Postnatal Loss of Mef2c Results in Dissociation of Effects on Synapse Number and Learning and Memory.MEF2D haploinsufficiency downregulates the NRF2 pathway and renders photoreceptors susceptible to light-induced oxidative stress.NitroSynapsin therapy for a mouse MEF2C haploinsufficiency model of human autism.ADGRV1 is implicated in myoclonic epilepsy.The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A.Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology.Function analysis of Mef2c promoter in muscle differentiation.Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.
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MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 07 February 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
MEF2C Haploinsufficiency featu ...... uronal developmental pathways.
@en
MEF2C Haploinsufficiency featu ...... uronal developmental pathways.
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MEF2C Haploinsufficiency featu ...... uronal developmental pathways.
@en
MEF2C Haploinsufficiency featu ...... uronal developmental pathways.
@nl
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MEF2C Haploinsufficiency featu ...... uronal developmental pathways.
@en
MEF2C Haploinsufficiency featu ...... uronal developmental pathways.
@nl
P2093
P2860
P1433
P1476
MEF2C Haploinsufficiency featu ...... uronal developmental pathways.
@en
P2093
Alex R Paciorkowski
Ali Fatemi
Allen N Lamb
Anu Venkat
Blake C Ballif
Brenda E Porter
Catharine J Harris
Elizabeth Berry-Kravis
Eric D Marsh
Jacqueline M Hoover
P2860
P2888
P304
P356
10.1007/S10048-013-0356-Y
P577
2013-02-07T00:00:00Z