{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ding Y"],"funding":["Science Technology Department of Zhejiang Province","National Natural Science Foundation of China","National Natural Science Foundation of China (NSFC)"],"pagination":["414-423"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10863925"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["11(2)"],"pubmed_abstract":["<h4>Objectives</h4>To investigate and characterize epileptic seizures and electrophysiological features of familial cortical myoclonic tremor with epilepsy (FCMTE) type 1 patients in a large Chinese cohort.<h4>Methods</h4>We systematically evaluated 125 FCMTEtype 1 patients carrying the pentanucleotide (TTTCA) repeat expansion in the SAMD12 gene in China.<h4>Results</h4>Among the 28 probands, epileptic seizures (96.4%, 27/28) were the most common reason for an initial clinic visit. Ninety-seven (77.6%, 97/125) patients had experienced seizures. The seizures onset age was 36.5 ± 9.0 years, which was 6.9 years later than cortical tremors. The seizures were largely rare (<1/year, 58.8%) and occasional (1-6/year, 37.1%). Prolonged prodromes were reported in 57.7% (56/97). Thirty-one patients (24.8%, 31/125) reported photosensitivity history, and 79.5% (31/39) had a photoparoxysmal response. Interictal epileptiform discharges (IEDs) were recorded in 69.1% (56/81) of patients. Thirty-three patients showed generalized IEDs and 72.7% (24/33) were occipitally dominant, while 23 patients presented with focal IEDs with 65.2% (15/23) taking place over the occipital lobe. Overnight EEG of FCMTE patients displayed paradoxical sleep-wake fluctuation, with a higher average IED index of 0.82 ± 0.88/min during wakefulness and a lower IED index of 0.04 ± 0.06/min during non-rapid eye movement sleep stages I-II.<h4>Interpretation</h4>FCMTE type 1 has a benign course of epilepsy and distinct clinical and electrophysiological features. In addition to a positive family history and cortical myoclonus tremor, the seizure prodromes, specific seizure triggers, photosensitivity, distribution of IEDs, and unique fluctuations during sleep-wake cycle are cues for proper genetic testing and an early diagnosis of FCMTE."],"journal":["Annals of clinical and translational neurology"],"pubmed_title":["Seizures and electrophysiological features in familial cortical myoclonic tremor with epilepsy 1."],"pmcid":["PMC10863925"],"funding_grant_id":["82201607","82201393","82071443","81971208","81571089","81971207","2019C03017"],"pubmed_authors":["Zheng Y","Wang B","Shen C","Wang H","Ye Y","Ming W","Yang D","Ding M","Yin H","Ding Y","Qiu X","Xie F","Ge Y","Wang S","Wu S","Luo W","Cen Z","Chen X","Hu L","Ouyang Z","Wang Z"],"additional_accession":[]},"is_claimable":false,"name":"Seizures and electrophysiological features in familial cortical myoclonic tremor with epilepsy 1.","description":"<h4>Objectives</h4>To investigate and characterize epileptic seizures and electrophysiological features of familial cortical myoclonic tremor with epilepsy (FCMTE) type 1 patients in a large Chinese cohort.<h4>Methods</h4>We systematically evaluated 125 FCMTEtype 1 patients carrying the pentanucleotide (TTTCA) repeat expansion in the SAMD12 gene in China.<h4>Results</h4>Among the 28 probands, epileptic seizures (96.4%, 27/28) were the most common reason for an initial clinic visit. Ninety-seven (77.6%, 97/125) patients had experienced seizures. The seizures onset age was 36.5 ± 9.0 years, which was 6.9 years later than cortical tremors. The seizures were largely rare (<1/year, 58.8%) and occasional (1-6/year, 37.1%). Prolonged prodromes were reported in 57.7% (56/97). Thirty-one patients (24.8%, 31/125) reported photosensitivity history, and 79.5% (31/39) had a photoparoxysmal response. Interictal epileptiform discharges (IEDs) were recorded in 69.1% (56/81) of patients. Thirty-three patients showed generalized IEDs and 72.7% (24/33) were occipitally dominant, while 23 patients presented with focal IEDs with 65.2% (15/23) taking place over the occipital lobe. Overnight EEG of FCMTE patients displayed paradoxical sleep-wake fluctuation, with a higher average IED index of 0.82 ± 0.88/min during wakefulness and a lower IED index of 0.04 ± 0.06/min during non-rapid eye movement sleep stages I-II.<h4>Interpretation</h4>FCMTE type 1 has a benign course of epilepsy and distinct clinical and electrophysiological features. In addition to a positive family history and cortical myoclonus tremor, the seizure prodromes, specific seizure triggers, photosensitivity, distribution of IEDs, and unique fluctuations during sleep-wake cycle are cues for proper genetic testing and an early diagnosis of FCMTE.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Feb","modification":"2024-11-13T21:06:32.455Z","creation":"2024-11-13T21:06:32.455Z"},"accession":"S-EPMC10863925","cross_references":{"pubmed":["38059543"],"doi":["10.1002/acn3.51961"]}}