A woman in her thirties with seizure relapse after a previous diagnosis of epilepsy

Olberg, H; Odland, Hans Henrik; Kask, Anne M.; Engelsen, Bernt A.

doi:10.4045/tidsskr.16.1044

Cited by 3 publications

(4 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As shown in Table 2, two studies reported sudden death among affected people, indicating that the gene variant has a high associated risk. 7,13,15,16,[18][19][20][21][22][23][24][25][26][27][28][29] Here, we report a family with a KCNH2 Arg 744* pathogenic variant presenting with both epilepsy and LQTS. The same variant was previously reported in patients with epilepsy or LQTS, but none of these cases had a dual phenotype of epilepsy and LQTS.…”

Section: Discussionmentioning

confidence: 85%

“…Although the KCNH2 Arg 744* variant has been previously reported in patients with epilepsy or LQTS, none of these cases had a dual phenotype of epilepsy and LQTS (Table 2). As shown in Table 2, two studies reported sudden death among affected people, indicating that the gene variant has a high associated risk [7,13,15,16,[18][19][20][21][22][23][24][25][26][27][28][29].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

KCNH2 variants in a family with epilepsy and long QT syndrome: A case report and literature review

Zhou

Hao

Sander

et al. 2023

Epileptic Disorders

View full text Add to dashboard Cite

Background Genes associated with Long QT syndromes (LQTS), such as KCNQ1, KCNH2, and SCN5A, are common causes of epilepsy. The Arg 744* variant of KCNH2 has been previously reported in people with epilepsy or LQTS, but none of these patients were reported to simultaneously suffer from epilepsy and LQTS.Case study Here, we report the case of a family with epilepsy and cardiac disorders. The proband, a 25-year-old woman, experienced her first seizure at the age of seven. Video electroencephalograms (vEEGs) showed epileptic discharges. Her 24-hour dynamic electrocardiograms (ECGs) showed QTc prolongation. The proband's mother, who is 50 years old, had her first generalized tonic-clonic seizure (GTCS) at the age of 18 years old. After she gave birth at the age of 25, the frequency of seizures increased, so antiepileptic therapy was initiated. When she was 28 years old, she complained of palpitations and syncope for the first time, and QTc prolongation was detected on her 24-hour dynamic ECGs. The proband's grandmother also had complaints of palpitations and syncope at the age of 73. Her 24-hour dynamic ECGs indicated supraventricular arrhythmia, with the lowest heart rate being 41 bpm, so she agreed to a pacemaker. A KCNH2 Arg 744*

show abstract

Section: Discussionmentioning

confidence: 85%

Section: Discussionmentioning

confidence: 99%

KCNH2 variants in a family with epilepsy and long QT syndrome: A case report and literature review

Zhou

Hao

Sander

et al. 2023

Epileptic Disorders

View full text Add to dashboard Cite

show abstract

“…It's well known that hypocalcemia leads to osteopenia and further osteoporosis (loss of bone density) [8]. In most cases at its early stages neonatal hypocalcemia are asymptomatic, but in late/advanced stages aponea, cyanosis, poor feeding, vomiting, trachicardia, heart failure, prolonged QT interval, tremor, laryngospasm, jerking and twitching episodes, tetanyand seizures are the main generalized clinical features [9]. Primarily three major hormones regulate the calcium homeostasis in our body which are; parathyroid hormone (PTH), 1, 25-dihydroxyvitamin D-3 (Vitamin D3), and calcitonin, and these three-control calcium transport in our gut, bone and kidney [10].…”

Section: Introductionmentioning

confidence: 99%

Identification of potent novel biomarkers related to Osteoporosis through bioinformatics approach

Khusboo

Bhushan

Kusum

et al. 2022

Preprint

View full text Add to dashboard Cite

Objective Calcium is fundamental component of bone tissue. It is present in extracellular fluid in ionized form, some are bounded with albumin while a few are of the complex anionic form. Calcium regulates many biochemical processes. Loss of calcium causes hypocalcemia further lead to osteopenia and osteoporosis. Proton pump inhibitor causes mal-absorption of calcium that leads to poor bone metabolism might causes hip fracture. Some studies via microRNA gene regulatory networks have been analyzed in the present study. Methods Microarray gene expression dataset has been retrieved by using NCBI gene expression Omnibus (GEO) database. Benjomini and Hochberg algorithm was used for identifying DEG’s and pre-processing of datasets. Heatmap plot and principal component analysis plot were generated by using online tool ClustVis for DEG’s. PPI network and sub network were analyzed by finding functional interactions among protein via online tool STRING v 10.5. DEG’s functional pathways analysis has been done by using DAVID (Database for Annotation, Visualization and Integration Discovery) software. Results A number of 3390 differentially expressed genes (DEG’s) were identified. …..were up-regulated and were down-regulated genes. DEGs related to Hypocalcemia and Bone signaling were 53, osteogenesis and bone signaling both were 86, whereas, 8 DEG’s related to hypocalcemia, Osteogenesis, and Bone signaling. The network of protein-protein interaction and sub network was having ITCH, CKAP4(Up) and FBXW11, RAB37(down) DEGs were concerned in hypocalcemia and were forming hub nodes while CHML, ATP11A, TMEM30A (Up) and YWHAE, AP1M1, FYN(down) DEG’s forming were all related to bone signaling. Functional enrichment analysis was performed notably enriched major molecular functions, biological processes and cellular components of novel DEG’s (FDR<0.05) related to hypocalcemia and osteoporosis were found. Conclusion Thus by concluding the genes ie; ITCH, CKAP4, FBXW11, RAB37, CHML, ATP11A, TMEM30A, YWHAE, AP1M1, FYN, CTNNB1, UBE2D1, RAP1A, EGFR, MAPK1 and AKT1, whether are unregulated or downregulatd in the diseased tissue samples, and plays a essential role in disease progression. These hub genes are occupied in different biological, molecular and cellular functions which might be related to bone signaling or osteoporosis. For the further cross validation wet lab experiments are required to validate gene roles.

show abstract

“…There is evidence from animal and human studies that the same gene mutations may predispose for both epilepsy and cardiac arrhythmia [ 50 , 51 ]. Multiple gene mutations linked to epilepsy and arrhythmia in humans have also been discovered, such as the ones in voltage-gated potassium channel α-subunit encoding gene KCNH2 [ 52 , 53 , 54 ], voltage-gated sodium channel α-subunit encoding gene SCN5A [ 55 , 56 ], and cardiac ryanodine receptor encoding gene RYR2 [ 57 ].…”

Section: Introductionmentioning

confidence: 99%

Electrocardiographic Abnormalities and Mortality in Epilepsy Patients

et al. 2021

View full text Add to dashboard Cite

Background and Objectives: People with epilepsy (PWE) have a 2–3 times higher mortality rate than the general population. Sudden unexpected death in epilepsy (SUDEP) comprises a significant proportion of premature deaths, whereas sudden cardiac death (SCD) is among the leading causes of sudden death in the general population. Cardiac pathologies are significantly more prevalent in PWE. Whether electrocardiographic (ECG) parameters are associated with remote death in PWE has yet to be elucidated. The study objective was to assess whether interictal ECG parameters are associated with mortality in the long-term. Materials and Methods: The study involved 471 epilepsy patients who were hospitalized after a bilateral tonic-clonic seizure(s). ECG parameters were obtained on the day of hospitalization (heart rate, PQ interval, QRS complex, QT interval, heart rate corrected QT interval (QTc), ST segment and T wave changes), as well as reported ECG abnormalities. Mortality data were obtained from the Latvian National Cause-of-Death database 3–11, mean 7.0 years after hospitalization. The association between the ECG parameters and the long-term clinical outcome were examined. Results: At the time of assessment, 75.4% of patients were alive and 24.6% were deceased. Short QTc interval (odds ratio (OR) 4.780; 95% confidence interval (CI) 1.668–13.698; p = 0.004) was associated with a remote death. After the exclusion of known comorbidities with high mortality rates, short QTc (OR 4.631) and ECG signs of left ventricular hypertrophy (OR 5.009) were associated with a remote death. Conclusions: The association between routine 12-lead rest ECG parameters—short QTc interval and a pattern of left ventricular hypertrophy—and remote death in epilepsy patients was found. To the best of our knowledge, this is the first study to associate rest ECG parameters with remote death in an epileptic population.

show abstract

A woman in her thirties with seizure relapse after a previous diagnosis of epilepsy

Cited by 3 publications

References 18 publications

KCNH2 variants in a family with epilepsy and long QT syndrome: A case report and literature review

KCNH2 variants in a family with epilepsy and long QT syndrome: A case report and literature review

Identification of potent novel biomarkers related to Osteoporosis through bioinformatics approach

Electrocardiographic Abnormalities and Mortality in Epilepsy Patients

Contact Info

Product

Resources

About