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Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Epileptic encephalopathies associated with chorea:28GNAO1 mutations.SCN1A-related phenotypic.FOXG1 mutations.SCN8A mutations.SCN2A-related disorders.UBA5 mutations.DNM1 mutations.FRRS1L mutations.GRIN1/GRIN2B/GRIN2D mutations.
Precision medicine in stroke and other related neurological diseases
Published in Debmalya Barh, Precision Medicine in Cancers and Non-Communicable Diseases, 2018
Anjana Munshi, Vandana Sharma, Sulena Singh
The understanding of mechanisms of neuronal alteration and maintenance of their molecular signatures during disease progression is a major requirement for clinically correct diagnosis of neurological disease. Numerous diagnostic investigations, including imaging techniques, are opted by concerned clinicians for prediction and analysis of the disease. Apart from these diagnostic measures, genomic profiling is one of the cornerstones of precision or personalized therapy, which not only forecasts the susceptibility to disease but also predicts the best possible treatment for the individual patient. Many genes, including ATP binding cassette subfamily A member 7 (ABCA7), bridging integrator 1 (BIN1), complement receptor 1 (CR1), phospholipase D3 gene (PLD3), and phosphatidylinositol-binding clathrin assembly protein gene (PICALM), have been revealed to contribute toward the excess burden of deleterious coding mutations in Alzheimer's disease (Ma et al., 2014; Jiang et al., 2014; Tan et al., 2014b; Cacace et al., 2015; Vardarajan et al., 2015). In the epileptic encephalopathies, trio exome sequencing has identified that genes UDP-N-acetylglucosaminyltransferase subunit (ALG), gamma-aminobutyric acid type a receptor β3 gene (GABRB3), dynamin 1 (DNM1), hyperpolarization activated cyclic nucleotide gated potassium channel 1 (HCN1), glutamate ionotropic receptor NMDA type subunit 2A (GRIN2A), gamma-aminobutyric acid type A receptor alpha1 subunit (GABRA1), G protein subunit alpha O1 (GNAO1), potassium sodium-activated channel subfamily T member 1 (KCNT1), sodium voltage-gated channel alpha subunit 2 (SCN2A), sodium voltage-gated channel alpha subunit 8 (SCN8A), and solute carrier family 35 member A2 (SLC35A2) are associated with epileptogenesis. Many of the proteins encoded by these genes have been found to be associated with synaptic transmission (Epi, 2015).
Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population
Published in International Journal of Neuroscience, 2023
Dilsad Turkdogan, Ayberk Turkyilmaz, Gunes Sager, Gulten Ozturk, Olcay Unver, Merve Say
Three patients were seizure-free after corticosteroid treatment. Ketogenic diet (KD), started at 39 days of age, stopped seizures in one patient with SCN2A variant. Other patients are still on polytherapy and/or KD for ongoing intractable seizures with partial improvement. Pathogenic variants in genes, which support using targeted medicine, were identified in 18.9% of diagnosed patients. In 6 patients with SCN2A, SCN8A and KCNQ2 variants, sodium blocking antiseizure medications partially improved seizure control. One patient with KCNT1 variant and one with KCNQ2 variant received targeted treatments, including quinidine and gabapentin, respectively, without any significant clinical response. Under specific therapies, 3 patients with treatable inherited metabolic disorders (IMDs) demonstrated good recovery in terms of social interactions and severity of seizures, despite the lack of a remarkable cognitive achievement.
A review of the pharmacotherapeutic considerations for managing epilepsy in people with autism
Published in Expert Opinion on Pharmacotherapy, 2022
Lance V Watkins, Maire O’Dwyer, Rohit Shankar
The severe pathological end of the SCN2A phenotype spectrum is associated with encephalopathy and a range of distinct epilepsy syndromes [68]. SCN2A mutations have also been associated with the etiology of autism and ID without epilepsy [69]. The SCN2A gene encodes for one of the most common voltage-gated sodium channels and variances in the functional impact may account for the phenotypic diversity. A heterogeneous phenotype exists even when the genotype is similar. Therefore, there are other influencing factors to consider and the limited treatment data available underpins the necessity for greater understanding of the mutation type and the natural history. For example, treatment outcomes for early infantile epilepsy with onset before 3 months are positive with sodium channel blockers (particularly phenytoin). However, with later childhood onset epilepsy, the response to sodium channel blockers is poor, aligned to the observations in Dravet syndrome [68,70].
Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population
Published in Annals of Medicine, 2022
Mansour A. Alghamdi, Laith N. AL-Eitan, Ashwag Asiri, Doaa M. Rababa’h, Sultan A. Alqahtani, Mohammed S. Aldarami, Manar A. Alsaeedi, Raghad S. Almuidh, Abdulbari A. Alzahrani, Ahmad H. Sakah, Eman Mohamad El Nashar, Mansour Y. Otaif, Nawal F. Abdel Ghaffar
In conclusion, within (SCN1A) gene the rs3812718, rs10194956, rs13383628, rs6432861 and rs1542484 may impact the risk of epilepsy. In addition, both rs4667485 and rs1469649 of SCN2A were significantly associated with epilepsy risk. For SCN3A, rs16850186 and the rs72550243 of SCN1B, we declare them as genetics factors that may influence the development and progression of epilepsy in Saudi population. Considering the clinical impact of epilepsy prognosis features, we propose voltage sodium channels as predictor factors for the clinical outcome of epilepsy. Molecular and Pharmacogenomics studies are highly recommended to elucidate the inter-individuals variability in response to AED in the light of different prognosis parameters.