Postconvulsive central apnea has emerged as a contributor to sudden unexplained death in epilepsy. The aim of this study was to evaluate the incidence and characteristics of postictal central apnea (PICA) in focal seizures. The secondary aim was to analyze morphometric features of the amygdala and other subcortical structures involved in autonomic control. We prospectively enrolled consecutive patients admitted to the Epilepsy Monitoring Unit at Modena Academic Hospital (Italy) from April 2020 to December 2023. Inclusion criteria were as follows: (1) age older than 13 years; (2) at least 1 focal-onset seizure recorded during long-term video-EEG monitoring (LTVEM) with cardiorespiratory polygraphy. For each seizure, the presence of ictal central apnea (ICA) and/or PICA and its features were evaluated. Amygdala, hippocampus, thalamus, brainstem, and cerebellum volumetry were compared in patients with ICA/PICA with respect to healthy controls and patients with focal seizures without peri-ictal breathing disorders. A total of 69 patients (mean age 35.7 years; 42% female) with 406 focal-onset seizures were analyzed. ICA was recorded in 71 seizures (17%) in 27 patients. PICA was recorded in 24 seizures in 12 patients (10 with temporal lobe epilepsy) corresponding to 5.9% of all recorded seizures. Notably, PICA was observed only in seizures showing ictal apnea (in 33.8%). In 11 seizures with PICA, a single apneic event starting in the ictal and extending to the postictal period was observed. In 13 seizures, multiple apneic events were present in the postictal period (range 2-8). Seizures with PICA showed a longer peri-ictal apnea time (mean 75 seconds vs 40 seconds; p = 0.007) and a longer time to restore a regular rhythmic breathing after seizure termination (mean 173 seconds vs 42 seconds; p < 0.001) than seizures with self-limiting ictal apnea. Amygdala volumes ipsilateral to the epileptogenic zone were larger in patients with ICA/PICA compared with controls and patients without seizure-related apnea. PICA occurs in approximately 6% of focal seizures and is associated with extended apnea time and an enlarged amygdala ipsilaterally to the epileptogenic zone. Our data support the existence of a continuum from ictal to PICA and highlight the importance of cardiorespiratory recordings in LTVEM.

ObjectivesDEPDC5-related epilepsy carries an increased risk of sudden unexpected death in epilepsy. We evaluated the occurrence and features of ictal central apnea (ICA) in patients with pathogenic sequence variant in DEPDC5.MethodsWe reviewed data of 108 ...

Among the etiologies of focal epilepsy, mutations of the GATOR1 complex genes—comprising NPRL3 , NPRL2 , and DEPDC5 —are known to result in overactivation of mTORC1. A recent study highlighted an association between ictal and postictal central apnea (ICA) and pathogenic variants of DEPDC5 . Here, we analyzed data from 134 patients across two independent cohorts diagnosed with focal epilepsy who underwent video‐electroencephalographic long‐term monitoring (VLTM) with cardiorespiratory polygraphy. Genetic testing results done for clinical–diagnostic purposes were reviewed in patients with epilepsy of unknown etiology and patients with magnetic resonance imaging (MRI)‐defined/suspected focal cortical dysplasia (FCD). In 46 patients, we recorded at least one seizure associated with ICA. Genetic testing was performed in 21 of 22 MRI‐negative patients with ICA, revealing variants in mTOR pathway genes in 10 cases (48%), including DEPDC5 ( n = 6), NPRL3 ( n = 3), and MTOR ( n = 1). Regarding MRI‐positive patients with ICA ( n = 24), an acquired lesional etiology was found in 11. Of 13 patients with MRI‐defined FCD, genetic testing was carried out in seven, all of whom had negative results. Moreover, no pathogenic variants were detected in the 14‐MRI negative patients without ICA. Our findings confirm that variants in mTOR pathway genes (not only in DEPDC5 ) are present in patients with ICA and underline the potential risk of sudden unexpected death in epilepsy. These results also highlight the importance of performing respiratory polygraphy during VLTM to document ictal apnea.

The etiology and risk factors of the extremely rare retinal artery occlusion (RAO) in pediatric patients are poorly understood. We report a case of transient branch RAO (BRAO) patent foramen ovale (PFO)-related left circulation thromboembolism. A healthy sixteen-year-old female presented with painless decreased vision in her left eye. Examinations revealed ischemic edema of a localized sector of the macular area and delayed artero-venous blood transit. Following neurological, cardiological and genetic examinations, a diagnosis and subsequent treatment for PFO were undertaken. This rare case shows that a PFO should be always considered as a potential etiology of RAO in young patients, thus highlighting the importance of investigating all potential sources of embolisms to prevent further ischemic events.

Ictal and post ictal central apnoea (ICA and PCA) are driven by suppression of brainstem respiratory drive and represent an electroclinical biomarker of sudden unexpected death in epilepsy (SUDEP). While animal models have demonstrated a true 'atonic diaphragm' underlying seizure-related apnoea, no human polygraphic study has yet confirmed respiratory muscle 'atonia' with direct EMG recording. In this case report, we present a 26-year-old female with meningoencephalocele-associated temporal lobe epilepsy who underwent a video-EEG polygraphy integrated with surface EMG from intercostals muscles and the diaphragm. We recorded a left frontotemporal seizure with ICA and four consecutives PCA events, all accompanied by surface electromyographic silence of the diaphragm and the intercostal muscles. This case provide a human polygraphic evidence of diaphragm and intercostal muscles silence during ICA and PCA, confirming the cascade of respiratory inhibition through brainstem respiratory centres down to respiratory muscles themselves. Notably, muscles relaxation occurred despite the patient was awake and able to follow commands. These findings support the importance of cardiorespiratory polygraphy during presurgical video-EEG evaluation, especially for temporal lobe seizures, to identify patients at higher SUDEP risk.