Results 31 to 40 of about 15,708 (241)

The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus

Human Genome Variation, 2023
HCN1 is one of four genes encoding hyperpolarization-activated cyclic nucleotide-gated channels. The phenotypic spectrum associated with HCN1 variants ranges from neonatal developmental and epileptic encephalopathy to idiopathic generalized epilepsy.
Yu Kobayashi, Jun Tohyama, Noriyuki Akasaka, Kei Yamada, Moemi Hojo, Eijun Seki, Masaki Miura, Noriko Soma, Takeshi Ono, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto   +12 more
doaj   +1 more source

Whole exome sequencing identified a novel homozygous ARV1 mutation in an Iranian family with developmental and epileptic encephalopathy-38

, 2021
Developmental and epileptic encephalopathy-38 (DEE38) is an inherited neurodegenerative disorder described by the onset of various type of seizures usually between around 4 and 7 months of age.
Reza Mirfakhraie, Emran Esmaeilzadeh, Sahar Bayat, Gholami, M., Milad Gholami, Mirfakhraie, R., Bayat, S., Esmaeilzadeh, E.   +7 more
core   +1 more source

epileptic encephalopathy

, 2022
ObjectiveSCN8A epileptic encephalopathy is caused predominantly by de novo gain-of-function mutations in the voltage-gated sodium channel Nav1.6. The disorder is characterized by early onset of seizures and developmental delay.
Jeremy A. Thompson, Wenker, Ian C., Eric R. Wengert, Wagley, Pravin K., Thompson, Jeremy A., Manoj K. Patel, Raquel M. Miralles, Wenxi Yu, Wengert, Eric R., Pravin K. Wagley, Miralles, Raquel M., Yu, Wenxi, Ian C. Wenker, Patel, Manoj K.   +13 more
core   +1 more source

Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review

Acta Epileptologica, 2023
Background SYNGAP1 is a significant genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy. De novo loss-of-function variants in this gene cause a neurodevelopmental disorder, for example, early-onset ...
Xingying Zeng, Yong Chen, Xiongying Yu, Yuanyuan Che, Hui Chen, Zhaoshi Yi, Jie Qin, Jianmin Zhong   +7 more
doaj   +1 more source

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

Annals of Clinical and Translational Neurology, 2019
Objective To characterize the molecular and clinical phenotypic basis of developmental and epileptic encephalopathies caused by rare biallelic variants in CACNA2D2.
Jaya Punetha, Ender Karaca, Alper Gezdirici, Ryan E. Lamont, Davut Pehlivan, Dana Marafi, Juan P. Appendino, Jill V. Hunter, Zeynep C. Akdemir, Jawid M. Fatih, Shalini N. Jhangiani, Richard A. Gibbs, A. Micheil Innes, Jennifer E. Posey, James R. Lupski   +14 more
doaj   +1 more source

Frequently Identified Genetic Developmental and Epileptic Encephalopathy: A Review Focusing on Precision Medicine [PDF]

Annals of Child Neurology, 2019
In this article, we reviewed current knowledge regarding gene-specific therapies for some developmental and epileptic encephalopathy caused by genes with high diagnostic yields, and which are therefore, also more frequently encountered by physicians ...
Ara Ko, Hoon-Chul Kang
doaj   +1 more source

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

Annals of Clinical and Translational Neurology, 2019
Objective To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy‐causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore genotype‐phenotype ...
Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A. H. M. Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic   +20 more
doaj   +1 more source

Epileptic spasms as the presenting seizure type in a patient with a new “O” of TORCH, congenital Zika virus infection

Epilepsy and Behavior Case Reports, 2019
Congenital TORCH infections are a significant cause of epileptic spasms, an infantile epileptic encephalopathy, through disruptions to several pathways in neurodevelopment. Congenital Zika virus has a similar neurotropism to other TORCH agents, and leads
Jason Lockrow, Hannah Tully, Russell P. Saneto   +2 more
doaj   +1 more source

The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy

, 2020
Aims: We aimed to delineate the phenotypic spectrum of SCN2A-related developmental and epileptic encephalopathy (DEE) and determine the effectiveness of various treatment modalities, including sodium channel blockers and the ketogenic diet.
양동화, 김세희, 이승태, 이준수, 김흥동, 강훈철, 김보람, 최종락   +7 more
core   +1 more source

Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants

Frontiers in Neurology, 2023
PACHTR1 is expressed in cardiovascular and neurological tissues. In the brain, it has a role in pre- and post-natal maturation. Previously reported PHACTR1-mutated patients showed early-onset epilepsy and intellectual disability.
Roberto Previtali, Alessia Leidi, Martina Basso, Giana Izzo, Cecilia Stignani, Luigina Spaccini, Maria Iascone, Pierangelo Veggiotti, Pierangelo Veggiotti, Stefania Maria Bova   +9 more
doaj   +1 more source