MyMedR

Fulltext Familial hemiplegic migraine in a child with seizure disorder: clinical history is the key to diagnosis

Balakrishnan P, Katakam PK, Hegde AP

BMJ Case Rep, 2019 Mar 25;12(3).

PMID: 30914414 DOI: 10.1136/bcr-2018-228687

Headache is a common presenting complaint in the paediatric population, with often migraine being a clinical diagnosis. Hemiplegic migraine is characterised by aura, sudden onset weakness of one side of the body which usually recovers without any residual neurological deficit. We report a child with a history of seizure disorder, well controlled and off medication for 3 years, who presented with a headache, aura and transient hemiplegia. Similar history in the patient's mother suggests the diagnosis of familial hemiplegic migraine. We would like to emphasise the importance of detailed history as an important aid in the diagnosis of neurological disorders in children.

Matched MeSH terms: Epilepsy/complications*

Fulltext Successful epilepsy surgery for tuberous sclerosis complex evaluated by stereoelectroencephalography

Fong CY, Bleasel A, Dexter MA, Lawson JA, Wong CH

Epileptic Disord, 2020 Oct 01;22(5):633-641.

PMID: 33146141 DOI: 10.1684/epd.2020.1211

Evaluating the candidacy for epilepsy surgery in patients with tuberous sclerosis can be challenging, particularly when non-invasive investigations do not show a clear epileptogenic zone. Stereoencephalography may be useful in such cases. We present a case in which the primary epileptogenic tuber was successfully identified by stereoencephalography, which resulted in seizure freedom following epilepsy surgery. [Published with video sequences].

Matched MeSH terms: Epilepsy/complications

Autopsy findings of SUDEP in adolescence

Afandi D, Romus I

Malays J Pathol, 2018 Aug;40(2):185-189.

PMID: 30173237

Sudden unexpected death in epilepsy (SUDEP) is a rare in children; the risk of SUDEP in children is up to 10-fold less than adults. Herein, we report a case of SUDEP in a 14-year-old boy. The post-mortem findings in neuropathological examination in SUDEP are not pathognomonic. Tongue and lip bites marks are only an indication of a seizure before death. Basically, there are no lesions that could explain the incidence of seizures before death. However, post-mortem examination is mandatory in order to determine the diagnosis of SUDEP. Autopsy, histopathological, and toxicologic examinations and a proper medical history of epilepsy are required to come to diagnosis of SUDEP. This case report further demonstrates the importance of medicolegal autopsy in allegedly dead victims.

Matched MeSH terms: Epilepsy/complications*

Malay public attitudes toward epilepsy (PATE) scale: translation and psychometric evaluation

Lim KS, Choo WY, Wu C, Tan CT

Epilepsy Behav, 2013 Nov;29(2):395-9.

PMID: 24090773 DOI: 10.1016/j.yebeh.2013.08.027

INTRODUCTION: None of the quantitative scales for public attitudes toward epilepsy had been translated to Malay language. This study aimed to translate and test the validity and reliability of a Malay version of the Public Attitudes Toward Epilepsy (PATE) scale.
METHOD: The translation was performed according to standard principles and tested in 140 Malay-speaking adults aged more than 18 years for psychometric validation.
RESULTS: The items in each domain had similar standard deviations (equal item variance), ranging from 0.90 to 1.00 in the personal domain and from 0.87 to 1.23 in the general domain. The correlation between an item and its domain was 0.4 and above for all items and was higher than the correlation with the other domain. Multitrait analysis showed that the Malay PATE had a similar variance, floor and ceiling effects, and relative relationship between the domains as the original PATE. The Malay PATE scale showed a similar correlation with almost all demographic variables except age. Item means were generally clustered in the factor analysis as the hypothesized domains, except those for items 1 and 2. The Cronbach's α values were within acceptable range (0.757 and 0.716 for the general and personal domains, respectively).
CONCLUSION: The Malay PATE scale is a validated and reliable translated version for measuring public attitudes toward epilepsy.

Matched MeSH terms: Epilepsy/complications

Paudel YN, Angelopoulou E, Jones NC, O'Brien TJ, Kwan P, Piperi C, et al.

ACS Chem Neurosci, 2019 10 16;10(10):4199-4212.

PMID: 31532186 DOI: 10.1021/acschemneuro.9b00460

Emerging findings point toward an important interconnection between epilepsy and Alzheimer's disease (AD) pathogenesis. Patients with epilepsy (PWE) commonly exhibit cognitive impairment similar to AD patients, who in turn are at a higher risk of developing epilepsy compared to age-matched controls. To date, no disease-modifying treatment strategy is available for either epilepsy or AD, reflecting an immediate need for exploring common molecular targets, which can delineate a possible mechanistic link between epilepsy and AD. This review attempts to disentangle the interconnectivity between epilepsy and AD pathogenesis via the crucial contribution of Tau protein. Tau protein is a microtubule-associated protein (MAP) that has been implicated in the pathophysiology of both epilepsy and AD. Hyperphosphorylation of Tau contributes to the different forms of human epilepsy and inhibition of the same exerted seizure inhibitions and altered disease progression in a range of animal models. Moreover, Tau-protein-mediated therapy has demonstrated promising outcomes in experimental models of AD. In this review, we discuss how Tau-related mechanisms might present a link between the cause of seizures in epilepsy and cognitive disruption in AD. Untangling this interconnection might be instrumental in designing novel therapies that can minimize epileptic seizures and cognitive deficits in patients with epilepsy and AD.

Matched MeSH terms: Epilepsy/complications

Ensuring children with epilepsy get vitamin D

Nurs Stand, 2016 Jul 20;30(47):17.

PMID: 27440341 DOI: 10.7748/ns.30.47.17.s20

Children with epilepsy need targeted strategies to ensure they get sufficient vitamin D, say researchers in Malaysia.

Matched MeSH terms: Epilepsy/complications

Fulltext A rare but treatable cause of recurrent chest pain - Ictal chest pain

Khoo CS, Lee D, Park KM, In Lee B, Kim SE

BMC Neurol, 2019 Dec 30;19(1):348.

PMID: 31888520 DOI: 10.1186/s12883-019-1575-0

BACKGROUND: Chest pain as the primary manifestation of epilepsy is extremely rare and has only been reported once to date.

CASE PRESENTATION: We herein describe a 47-year-old woman with recurrent chest pain for 3 years. The cause of her chest pain remained elusive despite extensive investigations including comprehensive cardiac work-up. She was referred to the neurology clinic for one episode of confusion. Video-electroencephalographic monitoring detected unequivocal ictal changes during her habitual chest pain events. She has remained chest pain (seizure) free with a single antiseizure drug.

CONCLUSIONS: This case underlines the importance of epilepsy as a rare yet treatable cause of recurrent chest pain. Further studies are required to determine the pathophysiology of ictal chest pain.

Matched MeSH terms: Epilepsy/complications*

The psychiatric aspects of epilepsy

Teoh JI

Med J Malaysia, 1973 Sep;28(1):8-15.

PMID: 4273788

Matched MeSH terms: Epilepsy/complications

Fulltext NMDA receptor antagonism with novel indolyl, 2-(1,1-Dimethyl-1,3-dihydro-benzo[e]indol-2-ylidene)-malonaldehyde, reduces seizures duration in a rat model of epilepsy

Rothan HA, Amini E, Faraj FL, Golpich M, Teoh TC, Gholami K, et al.

Sci Rep, 2017 03 30;7:45540.

PMID: 28358047 DOI: 10.1038/srep45540

N-methyl-D-aspartate receptors (NMDAR) play a central role in epileptogensis and NMDAR antagonists have been shown to have antiepileptic effects in animals and humans. Despite significant progress in the development of antiepileptic therapies over the previous 3 decades, a need still exists for novel therapies. We screened an in-house library of small molecules targeting the NMDA receptor. A novel indolyl compound, 2-(1,1-Dimethyl-1,3-dihydro-benzo[e]indol-2-ylidene)-malonaldehyde, (DDBM) showed the best binding with the NMDA receptor and computational docking data showed that DDBM antagonised the binding sites of the NMDA receptor at lower docking energies compared to other molecules. Using a rat electroconvulsive shock (ECS) model of epilepsy we showed that DDBM decreased seizure duration and improved the histological outcomes. Our data show for the first time that indolyls like DDBM have robust anticonvulsive activity and have the potential to be developed as novel anticonvulsants.

Matched MeSH terms: Epilepsy/complications

A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction

Sakamoto M, Kouhei D, Haniffa M, Silva S, Troncoso M, Santander P, et al.

J Hum Genet, 2020 Sep;65(9):751-757.

PMID: 32405030 DOI: 10.1038/s10038-020-0765-3

Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies with lack of myelination of the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices (MIM:616647). ITPase plays an important role in purine metabolism. In this study, we identified two novel homozygous ITPA variants, c.264-1 G > A and c.489-1 G > A, in two unrelated consanguineous families. The probands had epilepsy, microcephaly with characteristic magnetic resonance imaging findings (T2 hyperintensity signals in the pyramidal tracts of the internal capsule, delayed myelination, and thin corpus callosum), hypotonia, and developmental delay; both died in early infancy. Our report expands the knowledge of clinical consequences of biallelic ITPA variants.

Matched MeSH terms: Epilepsy/complications

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