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Sudden unexpected death in epilepsy
Published in Helen Whitwell, Christopher Milroy, Daniel du Plessis, Forensic Neuropathology, 2021
Christopher Milroy, Daniel du Plessis
In a 2013 study of monitored epilepsy patients with cardiorespiratory arrest, 11 cases of SUDEP were monitored, with 6 of these patients having an autopsy (Ryvlin et al. 2013). Eight patients had temporal lobe epilepsy. The longest documented seizure was 248 seconds. Out of 11 patients, 10 patients had what was termed early postictal neurodegenerative breakdown, which was defined as early, centrally mediated, severe alteration of both respiratory and cardiac function after generalised tonic-clonic seizures. In seven cases apnoea followed and then they went into asystole. These monitored patients showed four stages. The first was postictal rapid breathing between 18 and 50 breaths per minute (normal 12–18) with a heart rate of 55–145 beats a minute and a median rate of 90. Second, there was generalised postictal encephalography suppression. Third, early cardiorespiratory dysfunction developed in all patients during the first 3 minutes postictal. Lastly, terminal apnoeas always preceded asystole. Two patterns of evolution were noted. In some patients, the early cardiorespiratory arrest was terminal. In the other group, cardiorespiratory arrest spontaneously reversed after a median duration of 13 seconds of asystole. Restored respiration then progressively deteriorated until terminal apnoea and then terminal asystole.
Hereditary and Metabolic Diseases of the Central Nervous System in Adults
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Genetic causes have been discovered for several genetic (“primary”) focal epilepsy syndromes with onset in adulthood (Table 10.7). These syndromes are primarily clinical diagnoses, because each of the known causative genes only accounts for a small fraction of cases, and the causative mutation remains unknown in the majority of patients. There is also a clear genetic basis for other epilepsy syndromes that can have onset in adulthood, including genetic generalized epilepsies and familial mesial temporal lobe epilepsy, but the genes responsible have not yet been discovered. Genetic generalized epilepsies may be polygenic disorders due to the combined effect of mutations in several different genes in the same individual.
Paper 3
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
Temporal lobe epilepsy is a common cause of complex partial seizures and is associated with mesial temporal or hippocampal sclerosis. MRI findings which suggest the diagnosis are hippocampal T2 signal hyperintensity and volume loss. The mesial temporal lobes are best assessed on coronal acquisitions and T2 or FLAIR sequences are most helpful. Nuclear medicine can also have a role with SPECT and PET studies demonstrating hyperperfusion immediately following a seizure. It can be important to identify as the ictal focus can be treated surgically if seizures continue despite anti-epileptic medication.
Design and evaluation of chrysin-loaded nanoemulsion against lithium/pilocarpine-induced status epilepticus in rats; emphasis on formulation, neuronal excitotoxicity, oxidative stress, microglia polarization, and AMPK/SIRT-1/PGC-1α pathway
Published in Expert Opinion on Drug Delivery, 2023
Mina Y. George, Marwa O. El-Derany, Yasmine Ahmed, Malvina Zaher, Caroline Ibrahim, Habiba Waleed, Hajar Khaled, Gehad Khaled, Ahmed Saleh, Huda Alshafei, Rahma Alshafei, Nirmeen Ahmed, Sara Ezz, Nouran Ashraf, Shaimaa S. Ibrahim
Besides, Li/Pilo animal model is also useful in evaluating cognitive impairment seen in epilepsy patients. This was proven by the reduction seen in the spontaneous alternations and probe trial in y maze and Moris water maze tests, respectively in epileptic rats. On the other hand, CH pretreatment enhanced and corrected such cognitive impairment as demonstrated by increased spatial memory functioning in y maze and Moris water maze tests. This finding is in agreement with other studies reporting the ability of CH to counteract cognitive impairment in rats [32,70]. It is worth mentioning that locomotor activity and TAE in y maze test did not change among the groups. Such behavioral changes were further confirmed by histological examination of hippocampus regions; CA1, CA3, and dentate gyrus. Neuronal damage was found to be a common feature of temporal lobe epilepsy patients which may contribute to the process of epileptogenesis. CH pretreatment showed protective effects against such histopathological changes in all studied hippocampal areas. It is worthy to note that CH NE IN administration demonstrated superior protection especially for dentate gyrus region.
Heterozygous missense mutation of the RELN gene is one of the causes of epilepsy
Published in Neurological Research, 2022
Xi-Qin Fang, Ran-Ran Zhang, Xue-Wu Liu
The mutation in this patient’s family, located at the 50th exon of the RELN gene, is a heterozygous missense mutation (c.7909 C > T). The mutation site has not been reported in the Human Gene Mutation Database. To date, there have been no case reports of GTCS alone caused by mutations in the RELN gene. According to the American College of Medical Genetics and Genomics guidelines, the mutation is graded as having unknown clinical significance; however, in this family, this mutation is pathogenic. Several previous studies have reported that heterozygous mutations in the RELN gene can lead to autosomal dominant lateral temporal lobe epilepsy (ADLTE) [18,19]. Approximately 20% of ADLTE is associated with mutations in the RELN gene [20,21]; however, the patients in the previous studies were not Chinese. A study that conducted genetic screening among four Chinese families with ADLTE families found six patients who carried missense mutations in the RELN gene, but none of the RELN gene mutations in these six ADLTE patients was pathogenic [22]. Another study found a mutation in the RELN gene in two Chinese patients with sporadic medial temporal lobe epilepsy [23]. Therefore, the phenotype of the RELN gene mutation is heterogeneous and may be related to multiple types of seizures in Chinese people. It may also directly cause epilepsy or increase one’s susceptibility to it.
Operative variations in temporal lobe epilepsy surgery and seizure and memory outcome in 226 patients suffering from hippocampal sclerosis
Published in Neurological Research, 2021
Karl Roessler, Burkhard S Kasper, Julia Shawarba, Katrin Walther, Roland Coras, Sebastian Brandner, Fabian Winter, Hajo Hamer, Ingmar Blumcke, Michael Buchfelder
All patients underwent extensive epileptological examinations at the certified level 4 epilepsy center before surgery and suffered from verified electro-clinical temporal lobe epilepsy (TLE). Additionally, to evaluate the history and neurological status, prolonged video electroencephalography (EEG) monitoring, high-resolution magneto-resonance-imaging (MRI, according to the epilepsy protocol), and memory testing were performed in all patients. In selected cases, magnetoencephalography (MEG), single-photon emission computed tomography (SPECT), voxel-based morphometry (VBM), and Wada testing were performed. During the follow-up visit conducted at 6 months postoperatively, neuropsychological testing was routinely performed. Visual field testing using a standard automated computer perimeter was performed immediately before and after surgery as well as 6 months after surgery. Additionally, evaluation of peri- and post-operative complications and assessment of effectiveness of antiepileptic drugs before and after surgery were performed. The decision for surgery was confirmed at a multidisciplinary epilepsy conference, where epileptologists, neurosurgeons, neuroradiologists, neuropsychologists, and nuclear medicine physicians carefully weighted all findings and pro and cons of surgery.