Cargando…

Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy

OBJECTIVE: The LAMA5 gene encodes the laminin subunit α5, the most abundant laminin α subunit in the human brain. It forms heterotrimers with the subunit β1/β2 and γ1/γ3 and regulates neurodevelopmental processes. Genes encoding subunits of the laminin heterotrimers containing subunit α5 have been r...

Descripción completa

Detalles Bibliográficos
Autores principales:	Luo, Sheng, Liu, Zhi-Gang, Wang, Juan, Luo, Jun-Xia, Ye, Xing-Guang, Li, Xin, Zhai, Qiong-Xiang, Liu, Xiao-Rong, Wang, Jie, Gao, Liang-Di, Liu, Fu-Li, Ye, Zi-Long, Li, Huan, Gao, Zai-Fen, Guo, Qing-Hui, Li, Bing-Mei, Yi, Yong-Hong, Liao, Wei-Ping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9162154/ https://www.ncbi.nlm.nih.gov/pubmed/35663266 http://dx.doi.org/10.3389/fnmol.2022.825390

Ejemplares similares

SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation
por: Luo, Sheng, et al.
Publicado: (2023)

De Novo KCNQ2 Mutation in One Case of Epilepsy of Infancy With Migrating Focal Seizures That Evolved to Infantile Spasms
por: Duan, Haolin, et al.
Publicado: (2018)

Efficacy analysis of oral dexamethasone in the treatment of infantile spasms and infantile spasms related Lennox–Gastaut syndrome
por: Li, Jieling, et al.
Publicado: (2023)

Dalai Lama
Publicado: (2020)

Dalaï-Lama
Publicado: (2020)

Lamas in loops
por: Lai, Eric C.
Publicado: (2003)

Effect of LAMA4 on Prognosis and Its Correlation with Immune Infiltration in Gastric Cancer
por: Wang, Mingming, et al.
Publicado: (2021)

Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review
por: Wang, Duo-Zi, et al.
Publicado: (2023)

Clinical Analysis of Partial Epilepsy with Auras
por: Liu, Yang, et al.
Publicado: (2017)

Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation
por: Wang, Jing-Yang, et al.
Publicado: (2022)

Dalai Lama at CERN
Publicado: (1983)

Visit of Dalay Lama
Publicado: (1983)

Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures
por: Yamamoto, Toshiyuki, et al.
Publicado: (2015)

Emerging drugs for partial-onset epilepsy: a review of brivaracetam
por: Gao, Lan, et al.
Publicado: (2016)

Structural and Functional Amygdala Abnormalities in Hemifacial Spasm
por: Xu, Hui, et al.
Publicado: (2019)

Multifaceted atlases of the human brain in its infancy
por: Ahmad, Sahar, et al.
Publicado: (2022)

Retrospective clinical analysis of 320 cases of microvascular decompression for hemifacial spasm
por: Li, Zhimin, et al.
Publicado: (2018)

HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism
por: He, Na, et al.
Publicado: (2023)

Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy
por: Zhou, Jing, et al.
Publicado: (2018)

LAMA2 regulates the fate commitment of mesenchymal stem cells via hedgehog signaling
por: Zhu, Yuan, et al.
Publicado: (2020)

Dalai Lama comes to CERN
Publicado: (1983)

A Conversation with the Grand Lama
Publicado: (1889)

Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy
por: Lv, Yudan, et al.
Publicado: (2017)

Abnormal Regional Spontaneous Brain Activity and Its Indirect Effect on Spasm Ratings in Patients With Hemifacial Spasm
por: Luo, Fei-Fei, et al.
Publicado: (2020)

A rare case of arrhythmogenic right ventricular cardiomyopathy associated with LAMA2 mutation: A case report and literature review
por: Wang, Yue, et al.
Publicado: (2022)

Association analysis of polymorphisms of the CRHR1 gene with infantile spasms
por: YANG, GUANG, et al.
Publicado: (2015)

SIRT1/PGC-1α/PPAR-γ Correlate With Hypoxia-Induced Chemoresistance in Non-Small Cell Lung Cancer
por: Xu, Rui, et al.
Publicado: (2021)

Hot water epilepsy: A form of reflex epilepsy - from infancy to adolescence
por: Pejaver, Rajath, et al.
Publicado: (2015)

Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia
por: Marakhonov, Andrey V., et al.
Publicado: (2021)

Hyperglycemic hemifacial spasm: A case report
por: Chen, Yanxing, et al.
Publicado: (2021)

Variants in BRWD3 associated with X‐linked partial epilepsy without intellectual disability
por: Tian, Mao‐Qiang, et al.
Publicado: (2022)

Acquired parvalbumin‐selective interneuronopathy in the multiple‐hit model of infantile spasms: A putative basis for the partial responsiveness to vigabatrin analogs?
por: Katsarou, Anna‐Maria, et al.
Publicado: (2018)

Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy – a Genotype/Phenotype Correlation
por: Camelo, Clara Gontijo, et al.
Publicado: (2023)

Efficacy of Ketogenic Diet for Infantile Spasms in Chinese Patients With or Without Monogenic Etiology
por: Wang, Jun, et al.
Publicado: (2022)

Correlation of LAMA3 with onset and prognosis of ovarian cancer
por: Tang, Lin, et al.
Publicado: (2019)

Quantitative analysis of efficacy and safety of LABA/LAMA fixed-dose combinations in the treatment of stable COPD
por: Gong, Yiwen, et al.
Publicado: (2022)

Altered Cortical-Striatal Network in Patients With Hemifacial Spasm
por: Gao, Wenwen, et al.
Publicado: (2021)

La sabiduría del Dalai Lama /
por: Dalai Lama XIV, 1935-
Publicado: (1999)

Le Dalaï Lama au CERN
Publicado: (1983)

The Dalai Lama on visit to CERN, 1983
Publicado: (1983)

Cannot write session to /tmp/vufind_sessions/sess_hdka3o9v50ehtbo0d4ft36uqe4