Focal seizures, characterized by excessive electrical excitation in a brain region, present diagnostic challenges due to diverse manifestations, particularly with non-motor symptoms. Here, we present a 69-year-old Japanese woman experiencing unexplained recurrent episodes of sweating, chills, and shivering. Despite exhaustive investigations that identified no abnormalities, her symptoms remained unalleviated by symptomatic treatments. The episodic nature of her presentations subsequently prompted a clinical suspicion of seizures, leading to further neurological evaluations. Magnetic resonance imaging (MRI) of the brain and electroencephalography (EEG) revealed chronic ischemic changes in the cerebral white matter and intermittent sharp and slow wave bursts in the frontal regions. These findings led to a diagnosis of focal seizures manifesting as autonomic symptoms. The patient\'s symptoms were successfully treated with carbamazepine. This case illustrates the importance of considering non-motor focal seizures in patients with episodic symptoms, even when routine tests show no abnormalities.

In this study, we report on a case of probable sporadic Creutzfeldt-Jakob disease (sCJD) diagnosed after a difficult course of status epilepticus (SE) in a patient with poststroke epilepsy. The patient was admitted with progressive cognitive decline and convulsive SE; therefore, it was initially thought that the patient had developed SE due to nonadherence to antiseizure medication (ASM) use, but despite treatment with ASMs after admission, no improvement was noted in consciousness disturbance or lateralized periodic discharges (LPDs) on electroencephalogram (EEG) examination. After a refractory course, the progression of LPDs to generalized periodic discharges (GPDs) on EEG and abnormal magnetic resonance imaging (MRI) findings met the diagnostic criteria of sCJD. Even if the patient had epilepsy, such as poststroke epilepsy, as in this case, it is essential to consider other underlying causes, including CJD in cases of superrefractory SE.

Cryogenic magnetoencephalography (MEG) enhances the presurgical assessment of refractory focal epilepsy (RFE). Optically pumped magnetometers (OPMs) are cryogen-free sensors that enable on-scalp MEG recordings. Here, we investigate the application of tri-axial OPMs [87Rb (Rb-OPM) and 4He gas (He-OPM)] for the detection of interictal epileptiform discharges (IEDs). IEDs were recorded simultaneously with 4 tri-axial Rb- and 4 tri-axial He-OPMs in a child with RFE. IEDs were identified visually, isolated from magnetic background noise using independent component analysis (ICA) and were studied following their optimal magnetic field orientation thanks to virtual sensors. Most IEDs (>1,000) were detectable by both He- and Rb-OPM recordings. IEDs were isolated by ICA and the resulting magnetic field oriented mostly tangential to the scalp in Rb-OPMs and radial in He-OPMs. Likely due to differences in sensor locations, the IED amplitude was higher with Rb-OPMs. This case study shows comparable ability of Rb-OPMs and He-OPMs to detect IEDs and the substantial benefits of triaxial OPMs to detect IEDs from different sensor locations. Tri-axial OPMs allow to maximize spatial brain sampling for IEDs detection with a limited number of sensors.

Nitrogen permease regulator-like 3 (NPRL3) has been reported to play a role in seizure onset. The principal manifestation of NPRL3-related epilepsy is a range of epilepsy-associated syndromes, such as familial focal epilepsy with variable foci (FFEVF), sleep-related hypermotor epilepsy (SHE), and temporal lobe epilepsy (TLE). The association between phenotype and genotype of NPRL3 mutations remains inadequately described. This study aimed to explore the phenotypic and genotypic spectra of NPRL3-related epilepsy. We reported two novel NPRL3 variants in two unrelated epilepsy cases, including a nonsense (c.1174C > T, p.Gln392*) and a missense variant (c.1322C > T, p.Thr441Met). Following a review of the literature, a total of 116 cases of NPRL3-related epilepsy were assessed, mostly with nonsense and frameshift mutations. Our findings suggest that patients harboring various NPRL3 variants exhibit variable clinical manifestations. In addition, it may be worthwhile to consider the existence of NPRL3 mutations in epilepsy patients with a family history. This study provides useful information for the treatment and prognosis by expanding the phenotypic and genotypic spectrum of NPRL3-related epilepsy. PLAIN LANGUAGE SUMMARY: This study expands the phenotypic and genotypic spectra of NPRL3-related epilepsy by reporting two cases with different novel variants. Following a review of the literature, it was observed that patients harboring various NPRL3 variants exhibited a variability of clinical manifestations. Also, patients carrying nonsense mutations are frequently prone to drug resistance and other severe comorbidities such as developmental delay, but more cases need to be collected to confirm these findings.

暂无摘要。

BACKGROUND: NPRL2-related epilepsy, caused by pathogenic germline variants of the NPRL2 gene, is a newly discovered childhood epilepsy linked to enhanced mTORC1 signalling. However, the phenotype and genotype of NPRL2 variants are still poorly understood. Here, we summarize the association between the phenotype and genotype of NPRL2-related epilepsy.
METHODS: A retrospective analysis was conducted for four Chinese children with epilepsy due to likely pathogenic NPRL2 variants identified through whole-exome sequencing (WES). Previous reports of patients with NPRL2-related epilepsy were reviewed systematically.
RESULTS: One of our patients presented focal epilepsy involving the central region, which should be distinguished from self-limited epilepsy with centrotemporal spikes (SeLECTS). The four novel likely pathogenic NPRL2 variants consisted of two nonsense variants, one frameshift variant, and one copy number variant (CNV). Bioinformatics analysis revealed the two nonsense variants to be highly conserved and cause alterations in protein structure. Including our four cases, a total of 33 patients with NPRL2-related epilepsy have been identified to date. The most common presentation is focal epilepsy (70%), including sleep-related hypermotor epilepsy (SHE), temporal lobe epilepsy (TLE), and frontal lobe epilepsy (FLE). Infantile epileptic spasms syndrome (IESS) is also a notable feature of NPRL2-related epilepsy. Malformations of cortical development (MCD, 8/20), especially focal cortical dysplasia (FCD, 6/20), are common neuroimaging abnormalities. Two-thirds of the NPRL2 variants reported are loss of function (LoF) (14/21). Among these mutations, c.100C>T (p.Arg34*) and c.314T>C (p.Leu105Pro) have been detected in two families (likely due to a founder effect).
CONCLUSIONS: NPRL2-related epilepsy shows high phenotypic and genotypic heterogeneity. Our study expands the genotype spectrum of NPRL2-related epilepsy, and the phenotype of focal epilepsy involving the central region should be clearly distinguished with SeLECTS, with reference value for clinical diagnosis.

BACKGROUND: The occurrence of both an intracranial aneurysm and epilepsy, especially drug-resistant epilepsy (DRE), is rare. Although the overall incidence of aneurysms associated with DRE is unclear, it is thought to be particularly infrequent in the pediatric population. Surgical ligation of the offending aneurysm has been reported in conjunction with resolving seizure activity, although few cases have cited a combined approach of aneurysm ligation and resection of an epileptogenic focus.
METHODS: We present the case of a 14-year-old female patient with drug-resistant temporal lobe epilepsy and an ipsilateral supraclinoid internal carotid artery aneurysm. Seizure semiology, electroencephalography monitoring, and magnetic resonance imaging all indicated a left temporal epileptogenic focus, in addition to an incidental aneurysm. The authors recommended a combined surgery involving resection of the temporal lesion and surgical clip ligation of the aneurysm. Near-total resection and successful ligation were achieved, and the patient has remained seizure free since surgery at 1 year postoperatively.
CONCLUSIONS: In patients with focal DRE and an adjacent intracranial aneurysm, a combined surgical approach involving both resection and surgical ligation can be used. Several surgical timing and neuroanesthetic considerations should be made to ensure the overall safety and efficacy of this procedure.

UNASSIGNED: Epilepsy is still a real mental health problem; although most epilepsies are curable, their psychopathological consequences are often significant and complex to manage. In this framework, the association of epilepsy with psychotic disorders has long been known.
UNASSIGNED: To discuss the links between epilepsy and psychosis, we report the observation of a 52-year-old man, treated for complex focal epilepsy, admitted to a psychiatric department for auditory and visual hallucinations and a behavioural disorder not improved by antiepileptic treatment alone or an antipsychotic alone.
UNASSIGNED: Psychotic symptoms in epilepsy can be part of intercritical, post-critical or alternative psychoses. In our patient\'s case, the psychotic symptoms were post-critical and alternative. It was probably an associated schizophreniform disorder. Emotional indifference and activity restriction are rarely encountered in this setting, while rapid mood fluctuations are frequent. Delusional themes are often mystical, fueled by auditory and unusual visual hallucinations. Negative disorders are rare.
UNASSIGNED: Epileptic psychoses have not been identified as nosographic entities in the psychiatric classification systems (DSM-V and ICD-10), which poses a problem in recognizing these disorders. Therefore, a collaboration between psychiatrists and neurologists is necessary to understand this complex comorbidity better, avoid diagnostic errors, and optimize management.

OBJECTIVE: Triple X syndrome, is an often undiagnosed chromosomal abnormality with an incidence of 1/1000 females. Main associated disorders are urogenital malformations, premature ovarian failure or primary amenorrhea, gastrointestinal problems, psychiatric disorders and epilepsy. To date, triple X is not related to a specific epileptic syndrome. Therefore, the purpose of this clinical series is to analyze seizure semiology, electroencephalogram features and the long-term outcome of 13 patients with epilepsy and triple X syndrome.
METHODS: We retrospectively evaluated the long-term seizure outcome in patients with triple X syndrome who had been referred to 11 Epilepsy Centers in Italy. A close electroclinical follow-up was made for at least 2 years and outcomes were reported.
RESULTS: Our case series confirms that epilepsy is not an occasional finding but part of the phenotypic spectrum of this syndrome. The seizure semiology shows an higher prevalence of focal seizures in 62% of patients. EEG findings of focal epileptic activity were reported in 85% of patients. Anti-seizure medications were successful in all our patients whom in most cases were responsive to monotherapy.
CONCLUSIONS: According to our case series most successful drugs were VPA and LEV. Long term prognosis of epilepsy in our case series was good. Our experience suggests that all triple X patients achieve good seizure control and in 69% of cases normalization of the EEG.

BACKGROUND: Variants in the DEPDC5 have been proved to be main cause of not only various dominant familial focal epilepsies, but also sporadic focal epilepsies. In the present study, a novel variant in DEPDC5 was detected in the patient with focal epilepsy and his healthy father. We aimed to analyze the pathogenic DEPDC5 variant in the small family of three.
METHODS: A 5-month-old male infant presented with focal epilepsy. Whole exome sequencing identified a novel heterozygous variant c.1696delC (p.Gln566fs) in DEPDC5, confirmed by Sanger sequencing. The variant was inherited from healthy father.
CONCLUSIONS: Our study expands the spectrum of DEPDC5 variants. Moreover, We discuss the relation between the low penetrance of DEPDC5 and the relatively high morbidity rate of DEPDC5-related sporadic focal epilepsy. Besides, due to interfamilial phenotypic and genetic heterogeneity, we speculate the prevalence of familial focal epilepsy with variable foci might be underestimated in such small families. We emphasize the importance of gene detection in patients with sporadic epilepsy of unknown etiology, as well as their family members. It can identify causative mutations, thus providing help to clinicians in making a definitive diagnosis.