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Asian J Psychiatr 2022 May 10;73:103148. Epub 2022 May 10.

Jikei Hospital, Japan.

Aim: An inadequate seizure occasionally occurs during a course of acute electroconvulsive therapy (ECT) under the maximum approved electrical stimulation in Japan of 504 mC. This retrospective study was conducted to determine the effectiveness and adverse reactions of an oral theophylline augmentation technique.

Methods: A retrospective review of medical records was conducted of patients admitted to the Department of Psychiatry, Hiroshima Citizens Hospital, who received acute phase ECT from October 2014 to March 2017. Read More

J Clin Neurosci 2022 May 18;101:137-143. Epub 2022 May 18.

Department of Nephrology, Qilu Hospital of Shandong University, Jinan, China. Electronic address:

The present study aimed to investigate the clinical manifestations, epidemiological characteristics, and outcomes of Chinese patients with voltage-gated potassium channel complex (VGKC) antibody-associated encephalitis. Patients diagnosed with VGKC antibody-associated encephalitis at our institution between January 2016 and December 2020 were included in this study. We retrospectively evaluated their clinical features, auxiliary examination results, treatments details, long-term outcomes, and risk factors for poor outcome. Read More

Drugs 2022 May 21. Epub 2022 May 21.

Springer Nature, Private Bag 65901, Mairangi Bay, Auckland, 0754, New Zealand.

Ganaxolone (ZTALMY; Marinus Pharmaceuticals) is a synthetic neuroactive steroid that acts as a positive allosteric modulator of the gamma-aminobutyric acid (GABA) receptor complex. Ganaxolone received its first approval in March 2022 in the USA for the treatment of seizures associated with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) in patients 2 years of age and older. Approval was based on the results of a multinational phase III trial, in which ganaxolone was effective in reducing seizure frequency in children and adolescents with CDD. Read More

Neurogenetics 2022 May 21. Epub 2022 May 21.

Mckusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China.

Tuberous sclerosis complex (TSC) is mainly caused by variants in TSC1 and TSC2, which encodes hamartin protein and tuberin protein, respectively. Here, we report clinical and molecular characteristics of 18 families with TSC. High-throughput DNA sequencing was employed to detect variants in all the exons and flanking region of TSC1 and TSC2. Read More

Am J Med Genet A 2022 May 21. Epub 2022 May 21.

Department of Developmental Paediatrics, Christian Medical College and Hospital, Vellore, India.

We report here two girls from different Indian families identified with novel variants in the AT Hook DNA Binding Motif Containing 1 gene (AHDC1) causing Xia-Gibbs syndrome. The diagnosis was made by clinical exome in both cases. Inconsistent dysmorphic features such as dolichocephaly in the first patient and brachycephaly in the second were observed. Read More

J Investig Med High Impact Case Rep 2022 Jan-Dec;10:23247096221101855

Maimonides Medical Center, Brooklyn, NY, USA.

Elevated ammonia levels lead to cerebral edema, encephalopathy, seizures, coma, and death. Hyperammonemia is primarily associated with liver disease; however, there are rare cases without liver disease. Noncirrhotic hyperammonemia is primarily due to increased production and/or decreased elimination of ammonia. Read More

J Neurol 2022 May 20. Epub 2022 May 20.

Department of Clinical Neurophysiology, Copenhagen University Hospital, Copenhagen, Denmark.

Background: We aimed to determine school performance and psychiatric comorbidity in juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and generalized tonic-clonic seizures (GTCS) alone.

Methods: All children (< 18 years) fulfilled International League Against Epilepsy criteria after review of their medical records. Control groups were the pediatric background population or children with non-neurological chronic disease. Read More

J Neurol 2022 May 20. Epub 2022 May 20.

Department of Functional Neurology and Epileptology, Hospices Civils de Lyon and Lyon 1 University, Lyon, France.

Objective: To characterize the evolution of epilepsy in patients with leucine-rich glioma inactivated 1 antibody-associated (LGI1ab) limbic encephalitis, including factors associated with drug-resistant epilepsy (DRE).

Methods: Retrospective analysis of patients with LGI1 encephalitis managed at two tertiary epilepsy centers between 2005 and 2019 and whose samples were confirmed by the French Reference Center of Paraneoplastic Neurological Syndromes. Raw clinical, biological, EEG, and MRI data were reviewed. Read More

Neurologia (Engl Ed) 2022 May;37(4):304-306

Instituto de Investigación Biomédica de Málaga (IBIMA), Servicio de Neurología, UGC de Neurociencias, Hospital Regional Universitario de Málaga, Málaga, Spain.

Air Med J 2022 May-Jun;41(3):320-322. Epub 2022 Feb 15.

Department of Emergency Medicine, University of Pittsburgh Medical Center, Pittsburgh, PA.

Malignant hyperthermia (MH) is a rare disorder that leads to a hypermetabolic response; if unrecognized, it can quickly lead to serious morbidity and mortality. It is imperative that critical care transport providers are able to recognize and initiate treatment for MH. A 33-year-old man presented to the emergency department with seizures and altered mental status after ingesting methamphetamine. Read More

Neurosci Lett 2022 May 17:136684. Epub 2022 May 17.

Institute of Physiology. Av. 14 Sur # 6301. Col. Jardínes de San Manuel. Puebla, Pue. C.P. 72570, México; International Office, Benemérita Universidad Autónoma de Puebla. Torre de Gestión Académica y Servicios Administrativos, 3(er) piso. Col. Jardínes de San Manuel. Puebla, Pue. C.P. 72570, México. Electronic address:

Absence seizures are characterized as a generalized type of epilepsy that occurs during childhood. Importantly, absence seizures in children often discontinue after puberty. There is limited availability of animal models in which electroencephalography (EEG) can be performed in the long term; however, two absence seizure models, GAERS and WAG/Rij albino rats, are available. Read More

J Clin Neurosci 2022 May 16;101:112-117. Epub 2022 May 16.

Hospital Universitario Quirónsalud Madrid, Pozuelo de Alarcón, c/ Diego de Velázquez, 1, 28223 Pozuelo de Alarcón, Madrid, Spain.

We describea series of patients with COVID-19 who presented with seizures, reported in the Spanish Society of Neurology's COVID-19 Registry. This observational, descriptive,multicentre, registry-based study includes patients with confirmed COVID-19 who experienced seizures during active infection.Wedescribe theclinicalpresentation of COVID-19,seizures,and resultsof complementary tests. Read More

Acta Neurochir (Wien) 2022 May 20. Epub 2022 May 20.

Computational Neurosciences Outcomes Center, Department of Neurosurgery, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

Background: Optimal reconstruction materials for cranioplasty following decompressive craniectomy (DC) remain unclear. This systematic review, pairwise meta-analysis, and network meta-analysis compares cosmetic outcomes and complications of autologous bone grafts and alloplasts used for cranioplasty following DC.

Method: PubMed, Embase, and Cochrane were searched from inception until April 2021. Read More

Epilepsia 2022 May 20. Epub 2022 May 20.

Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan.

Objective: Cerebral cavernous malformations (CCMs) present variably and epileptic seizures are the most common symptom. The factors contributing to cavernoma-related epilepsy (CRE) and drug resistance remain inconclusive. The outcomes of CRE after different treatment modalities have not yet been fully addressed. Read More

Epilepsia 2022 May 20. Epub 2022 May 20.

Department of Neurology, National Cerebral and Cardiovascular Center, Osaka, Japan.

Objective: Motivated by the challenges raised by diagnosing poststroke epilepsy (PSE), especially in nonmotor onset seizure (non-MOS), we aimed to investigate features of non-MOS, including seizure sequences, patient characteristics, and electrophysiological and imaging findings in PSE.

Methods: This observational cohort study enrolled patients with PSE whose seizure onset was witnessed. According to the International League Against Epilepsy 2017 seizure classification, we classified seizure onset symptoms into the non-MOS and MOS groups. Read More

Hum Brain Mapp 2022 May 20. Epub 2022 May 20.

Comprehensive Epilepsy Center, Department of Neurology, NYU Grossman School of Medicine, New York, New York, USA.

In-scanner head motion systematically reduces estimated regional gray matter volumes obtained from structural brain MRI. Here, we investigate how head motion affects structural covariance networks that are derived from regional gray matter volumetric estimates. We acquired motion-affected and low-motion whole brain T1-weighted MRI in 29 healthy adult subjects and estimated relative regional gray matter volumes using a voxel-based morphometry approach. Read More

Semin Cardiothorac Vasc Anesth 2022 May 20:10892532221080946. Epub 2022 May 20.

University of Texas Health Science Center at Houston, Houston, TX, USA.

Mutations of the transport and Golgi organization 2 (TANGO2) genes are linked with both long-term neurological decline and acute metabolic crises during stress, leading to significant anesthetic risk. Crises are marked by rhabdomyolysis, lactic acidosis, seizures, cardiac dysfunction, and dysrhythmias. Much is unknown about optimal management of this condition, especially in the acute and critical care settings. Read More

Cleft Palate Craniofac J 2022 May 20:10556656221100675. Epub 2022 May 20.

6595University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

Introduction: The squamosal suture (SQS) joins the temporal to the parietal bones bilaterally and is a poorly described site of craniosynostosis. SQS fusion is thought to occur as late as the fourth decade of life and beyond; however, we have incidentally noted its presence among our pediatric patients and hypothesize that it may occur earlier in life and more frequently than previously believed.

Methods: A retrospective review of imaging performed on pediatric patients was completed to identify patients with SQS synostosis. Read More

Epilepsia 2022 May 20. Epub 2022 May 20.

Department of Biology, Indiana University-Purdue University Indianapolis, Indianapolis, IN, 46202, USA.

Objective: Family members carrying the same SCN1A variant often exhibit differences in the clinical severity of epilepsy. This variable expressivity suggests that other factors aside from the primary sodium channel variant influence the clinical manifestation. However, identifying such factors has proven challenging in humans. Read More

Ann Med Surg (Lond) 2022 Jun 11;78:103755. Epub 2022 May 11.

Department of Neurosurgery, Aleppo University Hospital, Aleppo University, Aleppo, Syria.

Introduction: Choroid Plexus Carcinomas (CPC) are rare malignant brain neoplasms of choroid plexus epithelium, with a tendency to occur in infants and children, especially those who are under two years of age. The Main symptoms of CPC include nausea, vomiting, headache, irritability, blurred vision, and seizures. Few studies discuss the therapeutic methods to treat this tumor. Read More

Mol Ther Nucleic Acids 2022 Jun 20;28:514-529. Epub 2022 Apr 20.

Department of Physiology and Medical Physics, RCSI University of Medicine and Health Sciences, Dublin D02 YN77, Ireland.

Angelman syndrome (AS) is a severe neurodevelopmental disorder featuring ataxia, cognitive impairment, and drug-resistant epilepsy. AS is caused by mutations or deletion of the maternal copy of the paternally imprinted gene, with current precision therapy approaches focusing on re-expression of . Certain phenotypes, however, are difficult to rescue beyond early development. Read More

Cureus 2022 Apr 16;14(4):e24186. Epub 2022 Apr 16.

Neurology, Dhaka Medical College Hospital, Dhaka, BGD.

Background: Occipital epilepsy is an uncommon and likely underdiagnosed type of epilepsy that is often misdiagnosed as a migraine with aura. High clinical suspicion and subsequent electroencephalogram (EEG) and brain imaging lead to early diagnosis.  Methods: We recruited patients with occipital epilepsy based on visual semiology, structural abnormalities in the occipital region, or EEG changes who visited the Department of Neurology of Dhaka Medical College from June 2019 to January 2020. Read More

Sensors (Basel) 2022 Apr 26;22(9). Epub 2022 Apr 26.

Epilepsy Center, Department of Neurosurgery, Medical Center-University of Freiburg, 79106 Freiburg im Breisgau, Germany.

Focal onset epileptic seizures are highly heterogeneous in their clinical manifestations, and a robust seizure detection across patient cohorts has to date not been achieved. Here, we assess and discuss the potential of supervised machine learning models for the detection of focal onset motor seizures by means of a wrist-worn wearable device, both in a personalized context as well as across patients. Wearable data were recorded in-hospital from patients with epilepsy at two epilepsy centers. Read More

Neurosurg Rev 2022 May 20. Epub 2022 May 20.

Department of Neurosurgery, Xiangya Hospital, Central South University, Changsha, China.

Seizures are the second most common manifestations of brain arteriovenous malformations (bAVMs). This study was conducted to investigate the clinical and angioarchitectural features of bAVMs with seizures and provide guidelines for the clinical management of these patients. We collected clinical and radiological data on patients with bAVMs diagnosed by digital subtraction angiography between January 2013 and December 2020 and dichotomized the patients into the seizures and non-seizures groups. Read More

Brain Dev 2022 May 16. Epub 2022 May 16.

Department of Mental Retardation and Birth Defect Research, NCNP, Kodaira, Tokyo, Japan; Medical Genome Center, NCNP, Kodaira, Tokyo, Japan.

Introduction: Pathogenic truncating variants in SMC1A, which is located on chromosome Xp11.2, are known to cause infantile-onset epilepsy and severe intellectual disability in girls. Several studies have reported a correlation between SMC1A truncations and seizure clustering; however, the associated electroencephalogram (EEG) patterns remain largely unknown. Read More

World Neurosurg 2022 May 16. Epub 2022 May 16.

Laboratory of Surgical Neuroanatomy,Universitat de Barcelona,Barcelona,Spain; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS),Barcelona,Spain.

Background: Epilepsy surgery has played an important role in the treatment of patients with medically intractable seizures. Different authors have proposed an endoscopic technique to perform disconnective procedures. However, a detailed description of intracerebral anatomy seen through an endoscopic transcallosal corridor has never been reported. Read More

Clin Chim Acta 2022 May 16. Epub 2022 May 16.

Birth Defects Prevention and Control Technology Research Center, Medical Research and Innovation Department, Chinese PLA General Hospital, Beijing, China.

Cerebral creatine deficiency syndromes (CCDSs) are a group of rare mendelian disorders mainly characterized by intellectual disability, movement anomaly, behavior disorder and seizures. SLC6A8, GAMT, and GATM are known genes responsible for CCDS. In this study, seven pediatric patients with developmental delay were recruited and submitted to a series of clinical evaluation, laboratory testing, and genetic analysis. Read More