Induced pluripotent stem cells derived from an autosomal dominant lateral temporal epilepsy (ADLTE) patient carrying S473L mutation in leucine-rich glioma inactivated 1 ( LGI1 )

Abstract

Autosomal dominant lateral temporal epilepsy (ADLTE) is an inherited epileptic syndrome, and it is associated with mutations of leucine-rich glioma inactivated 1 (LGI1) gene. The underlying mechanisms of ADLTE are still unknown, as human neurons are difficult to obtain as a research tool. Human induced pluripotent stem cells (iPSCs) allow the generation of patient-derived neuronal cells in a dish, and can be a promising tool to model ADLTE. Here, we report the establishment of human iPSCs from an ADLTE patient carrying LGI1 mutation (c.1418C>T, p.Ser473Leu).

Use of 3D Organoids as a Model to Study Idiopathic Form of Parkinson’s Disease

“…Sci. 2020, 21, 694 2 of 13 epilepsy [10], Creutzfeldt-Jakob disease [11] and neuronal ceroid lipofuscinosis [12]. iPSCs also opened up the possibility of studying diseases with unknown pathogenesis.…”

Human In Vitro Models of Epilepsy Using Embryonic and Induced Pluripotent Stem Cells

“…In this review, the studies using hiPSCs were grouped into two major categories. The first group is the studies that described the generation of patient-specific iPSC lines [ 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 ] that carry genetic variants in genes associated with epilepsy, such as SCN1A , GNB5, LGI1, GRIN2A, KCNC1, or KCNA2 ( Figure 3 , Table S1 ) [ 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 ]. The second group is the studies that assessed the effects of convulsant and anticonvulsant drugs on hiPSC-derived neurons and astrocytes ( Figure 4 , Table S1 ) [ 57 , 58 , 59 ].…”

“…Some of these studies used healthy human stem cells to either generate an in vitro disease model by genetically manipulating a gene of interest; or by assessing the effects of different compounds on chemically induced “epilepsy-like” phenotype on otherwise healthy neurons [ 57 , 58 , 59 , 60 ]. Others used the iPSCs derived from patients carrying a specific gene variance of interest ( Figure 4 ) [ 27 , 36 , 38 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , 87 ,…”

“…Dravet syndrome was the most commonly studied [ 60 , 61 , 62 , 63 , 64 , 65 , 67 , 68 , 69 , 114 ], followed by tuberous sclerosis [ 35 , 38 , 70 , 71 , 72 ], focal cortical dysplasia [ 82 , 83 , 84 , 85 , 104 ], and a few rare epilepsy syndromes [ 44 , 45 , 46 , 47 , 53 , 73 , 74 , 76 , 77 , 79 , 80 , 81 , 87 , 115 ]. These models have the potential to provide useful information about the involvement of a particular gene in disease progression and its anticonvulsant response.…”