Epilepsy & Behavior Case Reports

PRRT2 pathogenic variants have been described in benign familial infantile epilepsy, episodic ataxia, paroxysmal kinesigenic dyskinesia, and hemiplegic migraines. We describe a patient with compound heterozygous variants, infantile epilepsy with status epilepticus, paroxysmal dyskinesia and episodic ataxia. Testing revealed a pathogenic PRRT2 duplication (c.649dupC), and a likely pathogenic missense variant (c.916G>A). His presentation meets the severe phenotypic category with a combination of at least 3 neurological symptoms: seizures and status epilepticus, prolonged episodic ataxia, and paroxysmal dyskinesia...

•We present a family that includes members with phenotypes of generalized epilepsy and limb-girdle muscular dystrophy.•Subjects with heterozygous mutation developed epilepsy; a subject with homozygous mutation developed limb-girdle dystrophy.•Mutations in CAPN3 may play a role in the complex genetics of genetic generalized epilepsies.

•CAD is one of the most important predisposing factors of cerebral ischaemia in young adults.•Focal motor seizures with the involvement of the neck may represent a risk condition of developing CAD•A heightened awareness for CAD should be recommended in patients affected by epilepsy, carotid dopplers may confirm the clinical suspicion in case of significant neck trauma associated with seizures.

We present a unique case of a patient with drug-resistant focal epilepsy undergoing stereoelectroencephalography (sEEG) who developed an acute posttraumatic intracranial hemorrhage during monitoring, first detected by changes on sEEG. Our case demonstrates the evolution of electrographic changes at the time of initial hemorrhage to the development of ictal activity. We conducted spectral analysis of the sEEG data to illustrate the transition from an interictal to ictal state. Initially, delta power increased in the region of acute hemorrhage, followed by sustained regional reduction in frequency variability...

Calcifying pseudoneoplasms of the neuraxis (CAPNON) are rare pathological lesions that can present anywhere in the central nervous system. Symptoms vary depending on the location, though they often include seizures, especially in intracranial and supratentorial lesions. A case of intracranial supratentorial CAPNON presenting with drug-resistant left temporal lobe epilepsy is reported. The patient had a history of drug-resistant focal seizures for over 36 years. The lesion was located in the left mesial temporal lobe, but hippocampal sclerosis and hippocampal invasion were not apparent...

We report a case of neuronal intranuclear inclusion disease (NIID) confirmed by detection of intranuclear inclusions in a skin biopsy specimen. Brain magnetic resonance imaging showed mild cerebral atrophy and linear hyperintensities at the corticomedullary junction on diffusion-weighted images. This patient developed nonconvulsive status epilepticus with generalized periodic discharges on electroencephalography after recurrent symptoms of paroxysmal nausea and slowly progressive cognitive decline. There have been no previous reports of NIID with nonconvulsive status epilepticus to our knowledge...

•NMDA-receptor subunit expression of NR2A and NR2B is downregulated in heterotopias.•Glutamatergic transmission in the hyperexcitability of nodular heterotopias is implicated.•Mechanisms in PVNH to establish etiology specific therapies are still to be defined.

•Corpus callosum plays the important role in bilateral synchronous expression of focal discharges of ESES.•Sparing dominant hemisphere form continuous spike and slow waves during sleep accounts for normal cognitive scores.•Early detection and treatment of ESES have a great impact on cognitive and language scores and final prognosis.

To our knowledge, there are no reports of status epilepticus (SE) associated with mitochondrial diseases and treated with perampanel (PER). We present three cases of patients with refractory SE associated with MELAS syndrome who responded favorably to PER. All cases were diagnosed as non-convulsive SE (focal without impairment of level of consciousness). After an initial treatment with other anti-seizure drugs, PER was added in all cases (8, 16 and 12 mg) and cessation of SE was observed within the next 4-8 hours...

Background: Intraoperative electrocorticography (iECoG) recording is recommended for treating cavernoma related epilepsy. However, "interictal" paroxysmal activities are generally recordable but are not always identical to the epileptogenic zone. Case description: We surgically treated a 15-year-old girl with drug-resistant epilepsy associated with radiation-induced cavernoma in the right lateral temporal lobe. iECoG revealed paroxysmal activities in the cortex around the cavernoma...

The premise of neuro-rehabilitation after injury is to access the residual capacity of the nervous system to improve function. We describe a patient who developed a quadrantopsia and drug-resistant focal epilepsy after an arteriovenous malformation hemorrhage. Thirty years later, he underwent placement of subdural electrodes for seizure mapping. Phosphenes were elicited in the blind right visual field with stimulation of occipital cortex. This case demonstrates that visual cortex may retain functional organization after a partial subcortical visual pathway injury...

Forced normalization is the development of psychiatric symptoms in a patient experiencing remission of seizures. We present a case of Lennox Gastaut syndrome in which forced normalization developed after vagus nerve stimulation was stopped. The patient had drug resistant epilepsy and failed anti-seizure drugs, vagus nerve stimulation, and a partial callosotomy. The patient had multiple types of seizures including drop attacks, absences, and tonic-clonic seizures. He tried vagus nerve stimulation for two years without success...

Creutzfeldt-Jakob disease (CJD) presents with seizures as an early symptom in only approximately 3% of cases. These seizures often present as nonconvulsive status epilepticus (NCSE) or epilepsia partialis continua (EPC). Here, we describe a case of probable sporadic CJD (sCJD) in an 83-year-old man whose manifest an unusual presentation of left-hand tonic seizures without evolution to EPC, as well as brain MRI findings interpreted as peri-ictal changes, which led to an initial misdiagnosis of focal epilepsy...

"Burst-suppression" pattern consists of complete attenuation of background between bursts of mixed frequencies, variable morphology and waveforms. It is a subgroup of periodic patterns seen in severe cerebral damage, anesthesia or prematurity. Here, we present a 46-year-old woman with post-anoxic encephalopathy on cooling protocol with two electrographically similar patterns of burst-suppression (one with a clinical ictal correlate of isolated eye movements), as well as three electroclinical seizures...

We report a case of auditory disturbance in an adult female that developed after starting lacosamide treatment for epilepsy. While carbamazepine is known to change auditory pitch perception in some patients, that has not been previously reported as a side effect of lacosamide administration. In our description of pitch perception deficit associated with lacosamide, we outline features seen in our patient and compare our findings with those of previous reports describing carbamazepine-associated auditory disturbance...

We retrospectively investigated whether perampanel (PER) could serve as an alternative for treating drug-resistant seizures in lissencephaly. We investigated the following data: age at onset of epilepsy, age at start of PER, etiology, brain MRI findings, seizure type, seizure frequency, adverse effects, and concomitant anti-epileptic drugs. There were 5 patients with lissencephaly, including 2 with Miller-Dieker syndrome. Four out of five patients exhibited ≥ 50% seizure reduction. Myoclonic seizures disappeared in 1 patient...

The main focus of the present study was to explore the longitudinal changes in the brain executive control system and default mode network after hemispherotomy. Resting-state functional magnetic resonance imaging and diffusion tensor imaging were collected in two children with drug-resistnt epilepsy underwent hemispherotomy. Two patients with different curative effects showed different trajectories of brain connectivity after surgery. The failed hemispherotomy might be due to the fact that the synchrony of epileptic neurons in both hemispheres is preserved by residual neural pathways...

We describe a 23-year-old woman with previous right temporal lobe surgeries for underlying cortical dysplasia, presenting with drug-resistant right hemispheric seizures and epilepsia partialis continua (EPC). After anti-seizure medication adjustments, she developed focal status epilepticus with progressive EEG and neuroimaging changes. Cerebrospinal fluid and serum autoimmune panels were negative except for an elevated serum acetylcholine-receptor antibody titer, but she underwent immunosuppressive therapy...

Mortality associated with cannabis used for treatment of epilepsy is not well documented. We discuss two fatalities in the setting of epilepsy and self-determined therapy with cannabis (SDTC). One patient had probable sudden unexpected death in epilepsy, the second death was due to seizure-associated drowning. Both directed SDTC over conventional anti-seizure medications. Where recreational cannabis is legal, decisions to use cannabis are often self-directed and independent of physician advice of cannabis risks, in part because physicians may not be aware of the risk of SDTC...

Ictal syncope is a rare phenomenon that occurs in association with 0.002-0.4% of seizures. In the absence of other symptoms, seizures presenting with syncope may be challenging to diagnose. We report a case of a previously healthy male who developed recurrent episodes of syncope with postictal confusion and was later diagnosed with temporal seizures. The patient was successfully treated with anti-seizure drugs and placement of a cardiac pacemaker. In a systematic review of literature, we summarize the clinical characteristics of patients with ictal asystole and isolated syncope...