Ictal Asystole During Focal Seizures Due to Left Occipital Glioneuronal Tumor: A Report of Case Treated With Cardiac Neuromodulation.

Ictal asystole (IA) is a rare but potentially life-threatening complication of focal epilepsy. The sudden onset of loss of consciousness and drop attacks in a patient with chronic epilepsy should suggest the possibility of this complication. Once the diagnosis is established, rapid management should be considered, especially in high-risk cases. The approach does not differ between temporal and extratemporal lobe epilepsies. Strategies can be aimed at preventing the emergence of cortical epileptic activity from the beginning (surgery, antiseizure therapy), neutralizing negative chronotropic effects on the heart (cardiac neuromodulation), or restarting the heart rhythm with a pacemaker. Pacemaker implantation is not a completely complication-free treatment, and living with a device that requires care and follow-up throughout life makes alternative treatment methods more valid for young patients with many years to live or cases that could benefit from surgery. In this article, we present a patient with a left occipital glioneuronal tumor and drug-resistant occipital lobe epilepsy. IA was documented by long-term video EEG monitoring (VEM). During about 2 years of follow-up after a cardiac neuromodulation procedure, there were no drop attacks or asystole with seizures, confirmed by long-term VEM.

Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration.

OBJECTIVES: Beta-propeller protein-associated neurodegeneration (BPAN) is a rare X-linked dominant neurodegenerative disease, which is characterized by iron accumulation in the basal ganglia. BPAN is associated with pathogenic variation in WDR45, which has been reported almost exclusively in females most probably due to male lethality in the hemizygous state. METHODS: Whole exome sequencing (WES) and targeted deep sequencing were performed for a male with a clinical diagnosis of BPAN at the age of 37. RESULTS: The novel frameshift variant in WDR45 detected by WES was further analyzed with targeted resequencing to detect a mosaic variant with a level of 85.5% in the blood sample of the proband. DISCUSSION: Although the main role of WDR45 remains elusive, recent studies show that WDR45 may contribute to neurodegeneration through defects in autophagy, iron storage and ferritin metabolism, mitochondria organization, and endoplasmic reticulum homeostasis. The extend of spatiotemporal haploinsufficiency of WDR45 frameshifting variants caused by mosaicism in males may lead to variable clinical severity, which may be hard to elaborate clinically. Promising genetic analysis strategies using targeted deep sequencing may help determine the clinical outcome of somatic mosaicism in neurological disorders including BPAN. Additionally, we suggest that deep sequencing should be conducted in cerebrospinal fluid samples to provide more reliable results in terms of reflecting the mosaicism level in the brain for future studies.

L-carnitine pretreatment protects slow-twitch skeletal muscles in a rat model of ischemia-reperfusion injury.

Ischemia-reperfusion (I/R) injury negatively affects the outcome of surgical interventions for amputated or severely traumatized extremities. This study aimed to evaluate the protective role of l-carnitine on the contractile properties of fast-twitch (extensor digitorum longus [EDL]) and slow-twitch (soleus [SOL]) skeletal muscles following I/R-induced injury in a rat model. Rats were divided into 4 groups (1) saline pretreatment, (2) l-carnitine pretreatment, (3) saline pretreatment and I/R, and (4) l-carnitine pretreatment and I/R. Twitch and tetanic contractions in the EDL and SOL muscles in each group were recorded. Additionally, a fatigue protocol was performed in these muscles. Twitch and tetanic contraction amplitudes were lower in the EDL and SOL muscles in which I/R was induced (P < .01). l-Carnitine pretreatment significantly increased tetanic contraction amplitude in the SOL muscles following I/R (P < .01) but not in the EDL muscles. l-Carnitine pretreatment did not alter the fatigue response in any of the muscles.