Cargando…

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome

15q13.3 microdeletions are the most common genetic findings identified in idiopathic generalized epilepsies to date, and they are present in up to 1% of patients. In addition, 15q13.3 microdeletions have been described in patients with epilepsy as part of a complex neurodevelopmental phenotype. We a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Muhle, Hiltrud, Mefford, Heather C, Obermeier, Tanja, von Spiczak, Sarah, Eichler, Evan E, Stephani, Ulrich, Sander, Thomas, Helbig, Ingo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Blackwell Publishing Ltd 2011
Materias:	Brief Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3270691/ https://www.ncbi.nlm.nih.gov/pubmed/22050399 http://dx.doi.org/10.1111/j.1528-1167.2011.03301.x

Ejemplares similares

Seizure control in a patient with Dravet syndrome and cystic fibrosis()
por: Schmalbach, Barbara, et al.
Publicado: (2013)

A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability
por: Maldžienė, Živilė, et al.
Publicado: (2020)

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
por: Mefford, Heather C., et al.
Publicado: (2010)

KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability
por: Malvezzi, João VM, et al.
Publicado: (2018)

An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms
por: Iourov, Ivan Y., et al.
Publicado: (2013)

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
por: Ehret, Julia K., et al.
Publicado: (2015)

7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability
por: Paduano, Francesco, et al.
Publicado: (2020)

The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features
por: Hanafusa, Hiroaki, et al.
Publicado: (2017)

"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes
por: Rafati, Maryam, et al.
Publicado: (2012)

TCF12 microdeletion in a 72‐year‐old woman with intellectual disability
por: Piard, Juliette, et al.
Publicado: (2015)

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability
por: Antonacci, Francesca, et al.
Publicado: (2014)

A Novel de Novo Paracentric Inversion [inv(20)(q13.1q13.3)] Accompanied by an 11q14.3-q21 Microdeletion in a Pediatric Patient with an Intellectual Disability
por: Zachaki, S, et al.
Publicado: (2018)

An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature
por: Õunap, Katrin, et al.
Publicado: (2016)

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability
por: Choucair, Nancy, et al.
Publicado: (2015)

Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects
por: Rojnueangnit, Kitiwan, et al.
Publicado: (2019)

Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?
por: Strunk, Daniela, et al.
Publicado: (2016)

A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family
por: Xi, Hui, et al.
Publicado: (2020)

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome
por: Uddin, Mohammed, et al.
Publicado: (2018)

Concomitant CNVs in healthy carriers with 7q31.1 microdeletions may suppress intellectual disability and autism spectrum disorders phenotype
por: Belyaeva, E., et al.
Publicado: (2022)

A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures
por: Zhuang, Jianlong, et al.
Publicado: (2023)

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome
por: Luisa, Sciacca Francesca, et al.
Publicado: (2018)

L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants
por: Krey, Ilona, et al.
Publicado: (2022)

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
por: Mosca-Boidron, Anne-Laure, et al.
Publicado: (2016)

19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome
por: Dong, Hai-Yun, et al.
Publicado: (2016)

Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way
por: Mulley, John C, et al.
Publicado: (2009)

A 1.6-Mb Microdeletion in Chromosome 17q22 Leads to NOG-Related Symphalangism Spectrum Disorder without Intellectual Disability
por: Pang, Xiuhong, et al.
Publicado: (2015)

A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism
por: Sangu, Noriko, et al.
Publicado: (2017)

Further clinical and molecular delineation of the 15q24 microdeletion syndrome
por: Mefford, Heather C, et al.
Publicado: (2011)

Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion
por: Swan, L., et al.
Publicado: (2018)

An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
por: Cappi, Carolina, et al.
Publicado: (2014)

Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion
por: Körner, Marek B., et al.
Publicado: (2022)

Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies
por: Lal, Dennis, et al.
Publicado: (2015)

Intellectual Disability in Two Brothers Caused by De Novo Novel Unbalanced Translocation (13;18) (q34,q23) and De Novo Microdeletion 6q25 Syndrome
por: Alhashem, Amal M, et al.
Publicado: (2020)

Clinical and molecular characterization of a de novo 19p13.3 microdeletion
por: Palumbo, Pietro, et al.
Publicado: (2016)

Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3
por: Blazejewski, Sara M., et al.
Publicado: (2018)

A mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairment
por: Nilsson, Simon R. O., et al.
Publicado: (2016)

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
por: Ito, Yoko, et al.
Publicado: (2018)

Loss-of-function variants of SCN8A in intellectual disability without seizures
por: Wagnon, Jacy L., et al.
Publicado: (2017)

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures
por: Horn, Susanne, et al.
Publicado: (2019)

Turner Syndrome Associated With Refractory Seizures and Intellectual Disability: A Case Study
por: Akasaka, Manami, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_mh2gves5pqbtalbfljuja8phmu