Results 61 to 70 of about 15,708 (241)

CONSTRUCTING A PREDICTIVE MODEL FOR SCN8A DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY

, 2022
SCN8A Developmental and Epileptic Encephalopathy (SCN8A-DEE) is a rare pediatric neurological disease caused by mutations in the SCN8A gene, which encodes for the voltage-gated sodium channel Nav1.6.
Hack, Joshua Brandon
core   +4 more sources

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

, 2021
Chromosome 1q41-q42 deletion syndrome is a rare cause of intellectual disability, seizures, dysmorphology, and multiple anomalies. Two genes in the 1q41-q42 microdeletion, WDR26 and FBXO28, have been implicated in monogenic disease.
Donkervoort, S, Gabau, E, Basinger, A, Balak, C, Gorman, KM, Arellano, M, Brunetti-Pierri, N, Spataro, N, Chambers, C, Rossignol, E, King, MD, Bönnemann, CG, Perry, MS, Hamdan, FF, Cappuccio, G, Rodan, L, Mefford, HC, Muir, AM, Scheffer, IE, Helbig, KL, Soldatos, A, Schneider, AL, Myers, CT, Michaud, JL, Calvert, S   +24 more
core   +2 more sources

Early Onset West Syndrome with Hypomyelination, Coloboma and SPTAN1 Mutation

Pediatric Neurology Briefs, 2012
Investigators from Ljubljana, Slovenia report an 8-month-old female infant with hypotonia, lack of visual attention, early onset epileptic encephalopathy, and severe developmental delay.
J Gordon Millichap
doaj   +1 more source

RHOBTB2 gene associated epilepsy and paroxysmal movement disorder: two cases report and literature review

Acta Epileptologica, 2021
Background RHOBTB2 gene is associated with developmental and epileptic encephalopathy-64(DEE-64), which is characterized by epilepsy, developmental delay, microcephaly, unspecific facial dysmorphism, and paroxysmal movement disorders.
Xueyang Niu, Yan Sun, Ying Yang, Miaomiao Cheng, Quanzhen Tan, Jie Zhang, Yuehua Zhang   +6 more
doaj   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Clinical phenotypes of developmental and epileptic encephalopathy-related recurrent KCNH5 missense variant p.R327H in Chinese children

Epilepsy & Behavior Reports
KCNH5 gene encodes for the voltage-gated potassium channel protein Kv10.2. Here, we investigated the clinical features of developmental and epileptic encephalopathy (DEE) in five Chinese pediatric patients with a missense mutation (p.R327H) in KCNH5 gene.
Sheng Huang, Chunhui Hu, Min Zhong, Qinrui Li, Yuanyuan Dai, Jiehui Ma, Jiong Qin, Dan Sun   +7 more
doaj   +1 more source

Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes

Stem Cell Reports, 2018
Summary: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy with a high incidence of sudden unexpected death in epilepsy (SUDEP). Most DS patients carry de novo variants in SCN1A, resulting in Nav1.1 haploinsufficiency.
Chad R. Frasier, Helen Zhang, James Offord, Louis T. Dang, David S. Auerbach, Huilin Shi, Chunling Chen, Alica M. Goldman, L. Lee Eckhardt, Vassilios J. Bezzerides, Jack M. Parent, Lori L. Isom   +11 more
doaj   +1 more source

Pyridoxine‐responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review

Molecular Genetics & Genomic Medicine, 2022
Background Typical patients with KCNQ2 (OMIM# 602235) epileptic encephalopathy present early neonatal‐onset intractable seizures with a burst suppression EEG pattern and severe developmental delay or regression, and those patients always fail first‐line ...
Jun Chen, Qiuji Tao, Lijuan Fan, Yajun Shen, Jinfeng Liu, Huan Luo, Zuozhen Yang, Mengmeng Liang, Jing Gan   +8 more
doaj   +1 more source