Status epilepticus in patients with juvenile myoclonic epilepsy: Frequency, precipitating factors and outcome.

Status epilepticus (SE) is rarely described in patients with juvenile myoclonic epilepsy (JME), and little is known about its frequency, subtypes, and predictors and the prognosis of these patients. In this retrospective study, we aimed to analyze the incidence of SE in patients with JME and emphasize the risk factors and long-term outcome of SE in an epilepsy outpatient-based cohort. We included patients with JME with a history of predominant myoclonic seizures and at least one diagnostic EEG with normal background activity and bursts of typical ≥3-Hz generalized spike-polyspike and waves. We investigated the electroclinical features of patients with JME who had experienced SE and compared them with patients with JME without SE. Of the 133 patients with JME, only 5 patients were diagnosed with SE (3.8%) according to new criteria. The most common SE subtype was myoclonic SE (MSE, 4 patients), followed by generalized clonic-tonic-clonic SE (1 patient) and nonconvulsive SE (1 patient). One patient had both MSE and generalized clonic-tonic-clonic SE. In three out of five patients, recurrent episodes of SE were observed. Same seizure precipitants including sleep deprivation, inappropriate antiepileptic drug treatment, and noncompliance were identified in patients with JME with and without SE, not reaching a significant difference between the groups. Myoclonia limited to specific body parts (one arm, face, or head) were significantly more common in patients with JME with SE (p: 0.002). We did not find any significant correlation with drug-resistant course and SE. Status epilepticus is rarely observed in patients with JME, and MSE appears to be the most common subtype. Local myoclonia might predict SE in a subgroup of patients with JME. We may suggest that some patients with JME have a liability to SE, in addition to usual seizure precipitating factors of JME. It seems that SE per se does not affect the outcome of JME and the patients with SE did not have drug-resistant course in the final analysis.

Calcium channel antibodies in patients with absence epilepsy.

Autoimmunity has aroused interest in the last years as a contributory mechanism of epilepsy, especially in epilepsies with unknown cause or therapy resistance. Since the relationship of absence epilepsy (AE) with calcium channels is well established, we aimed to investigate related antibodies in patients diagnosed with AE. Consecutive patients with typical absence seizures having either childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) with generalized spike and wave discharges on electroencephalography (EEG) were included after their consent. The patients were diagnosed according to the International League Against Epilepsy (ILAE) 2010 criteria. Antibodies against P-Q type voltage gated calcium channels (VGCC) and T-type VGCC subunit Cav3.2 (encoded by the CACNA1H gene) were investigated by RIA and ELISA, respectively. We searched for these antibodies in 32 patients with AE and 53 patients with focal epilepsy of unknown cause (FEOUC) as the disease control group; furthermore, 30 healthy persons served as the healthy controls. Eleven patients (34.3%) with AE had CAE and the remaining patients had JAE. Only a 47-year-old female FEOUC patient, who also had systemic lupus erythematosus with normal MRI scans showed antibodies against P-Q type VGCC, whereas no antibody positivity could be found in other FEOUC and AE patients and healthy controls. Our results might suggest that calcium channel antibodies do not play an important role in the pathophysiology of AE. Further studies with larger groups of other epileptic syndromes are needed to confirm our results.

Electroencephalography Findings in Crohn's Disease.

OBJECTIVES: Crohn's Disease (CD) is a chronic systemic inflammatory disease associated with various extraintestinal manifestations, including seizure as a neurological finding. In this study, the prevalence of seizure and electroencephalographic abnormalities in patients with CD was investigated. MATERIALS AND METHODS: This study involved 41 patients with CD (female/male: 25/16) and 39 subjects in the control group (female/male: 25/14). Patients in the CD group were diagnosed and monitored according to the European Crohn's and Colitis Organization diagnostic criteria. The control group was composed of healthy subjects with similar age and sex as the CD group. Seizures were classified according to the criteria of the International League Against Epilepsy. Electroencephalography (EEG) was performed for all patients with CD and for healthy subjects. Seizure prevalence and EEG findings were also compared. RESULTS: One patient in the CD group had history of seizures. EEG abnormality was significantly higher in the CD group (16/41, 39%) ( P = .001). The most common EEG abnormality was intermittent generalized slow wave abnormality in theta frequency. DISCUSSION: Our study indicated that CD was associated with EEG abnormalities rather than seizure. The results also indicated that EEG was a potential indicator for detecting subclinical neurological abnormalities in CD.

Importance of latency and amplitude values of recurrent laryngeal nerve during thyroidectomy in diabetic patients.

BACKGROUND: Diabetes mellitus may cause degeneration in the myelin and/or axonal structures of peripheral nerves. The aim of this study was to investigate the effects of diabetic neuropathy on intraoperative neuromonitoring findings such as latency and amplitude values of the recurrent laryngeal nerves during thyroidectomy. To our knowledge this is the first study to report comparison of the electrophysiologic features of diabetic and non-diabetic patients. MATERIALS AND METHODS: One-hundred-and-eleven consecutive patients who received neuromonitoring during thyroidectomy between 2013 and 2015 were included to study. The patients were divided into two groups according to the presence of diabetes mellitus. Pre-thyroidectomy and post thyroidectomy motor response latency and amplitude values of recurrent laryngeal nerves were compared between groups. Neuromonitoring findings, demographic data and postoperative complications were evaluated. RESULTS: The diabetic group consisted of 29 (26.1%) patients while 82 (73.9%) patients were in non-diabetic group. The mean post-thyroidectomy amplitude values (millivolts-mV) of the recurrent laryngeal nerve were significantly lower in diabetic group (0.51 ± 0.26 mV vs. 0,70 ± 0,46 mV, p < 0.05), whereas the latency values were significantly higher (2.50 ± 0.86 ms vs. 1.85 ± 0.59 ms, p < 0.01) compared to non-diabetic group. Additionally, post-thyroidectomy latency values were significantly increased compared to the pre-thyroidectomy latency values (2.50 ± 0.86 ms vs. 2.02 ± 0.43 ms) in diabetic group patients (p < 0.05). Although postoperative complication rates were higher in diabetic group (10.3% vs. 5.9%), there were no statistical significance differences. CONCLUSIONS: Prolonged latency and decreased amplitude values in recurrent laryngeal nerves of diabetic patients show that diabetic neuropathy of the recurrent laryngeal nerves develop similarly to the peripheral nerves. Increased post-thyroidectomy latency values reveal that the recurrent laryngeal nerve is more susceptible to surgical trauma in diabetic patients.

Analysis of the tremor in juvenile myoclonic epilepsy.

PURPOSE: We aimed to investigate juvenile myoclonic epilepsy (JME) patients complaining of tremor unrelated to valproate (VPA) treatment and evaluate if there were differences between JME patients with and without tremor and essential tremor (ET) patients to exclude comorbidity. METHODS: Fifteen JME cases with the complaint of tremor, 14 JME patients without tremor, 14 patients with ET and 14 healthy subjects (HS) were included. Regularity, frequency and amplitude of the tremor and superimposed myoclonia were assessed by accelerometric analysis. Cortical SEPs evoked by the stimulation of the median nerve were recorded bilaterally. Clinical and neurophysiologic features were statistically compared between the groups. FINDINGS: Amplitude of postural tremor of the left hand was significantly increased in the ET group compared to JME patients with tremor, but there were no differences regarding to frequency. Strikingly, there were superimposed irregular, low-amplitude inconstant myoclonic jerks located to distal part of the fingers in JME group with tremor. Initial frequency of myoclonic seizures was also significantly higher in this group compared to JME patients without tremor but this difference disappeared after treatment. The group of JME with tremor had the highest N20-P25 and P25-N35 amplitudes, followed by JME without tremor, ET and HS, respectively. CONCLUSION: Tremulous hand movements in JME resembled ET, but their amplitude was lower and characterized with accompanying irregular myoclonic jerks. The presence of tremor in JME patients should be taken into consideration to create more homogeneous groups in genetic and pathophysiological studies of JME.

Autosomal Dominant Cortical Tremor, Myoclonus, and Epilepsy Syndrome mimicking Juvenile Myoclonic Epilepsy.

INTRODUCTION: Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) syndrome is a genetically heterogeneous and under-recognized disease characterized by tremulous movements mimicking essential tremor, myoclonus, and rare generalized tonic-clonic seizures. Here we described the clinical and electrophysiological features of three siblings with ADCME syndrome mimicking juvenile myoclonic epilepsy (JME). METHODS: Three siblings (two females and one male) diagnosed with ADCME were analyzed by electroencephalogram (EEG), somatosensory evoked potentials, and accelerometric recordings. The results were compared with 14 JME patients without tremor and 14 with essential tremor (ET). RESULTS: The shared features of the siblings were cortical tremor, myoclonia, epilepsy, migraine, and psychiatric symptoms. In all siblings, tremor had started before myoclonic epilepsy associated with 4-6 Hz generalized spike and wave discharges. The N20-P25 and P25-N35 amplitudes were substantially higher in the three siblings with ADCME. Although tremor frequencies were similar to those of the ET group, the siblings had mild interrupting low-amplitude myoclonus, suggestive of cortical tremor, in the accelerometric analysis. CONCLUSION: We presented a detailed clinical evaluation with electrophysiological confirmation of ADCME syndrome in a Turkish family. This rare clinical picture might be misdiagnosed as JME and should be kept in mind to ensure correct diagnosis and to provide a homogenous group for genetic studies.

Galactosemia and phantom absence seizures.

Generalized and focal seizures can rarely be seen in galactosemia patients, but absence seizures were not reported previously. An 18-year-old male was diagnosed as galactosemia at the age of 8 months. No family history of epilepsy was present. His absence seizures realized at the age of 9 years. Generalized 3-4 Hz spike-wave discharges were identified in his electroencephalography. Homozygous mutation at exon 6 c. 563A > G was identified. The electroencephalogram of his sibling was unremarkable. Our aim was to present the long-term follow-up of a patient diagnosed with galactosemia, who had phantom absence seizures and typical 3-4 Hz spike-wave discharges in his electroencephalogram to draw attention to this rare association.

Long-term follow-up of adult patients with genetic generalized epilepsy with typical absence seizures and generalized paroxysmal fast activity in their EEG.

PURPOSE: Generalized paroxysmal fast activity (GPFA), an EEG pattern with variable frequency and duration, is usually noted in symptomatic/cryptogenic generalized epilepsies. However, GPFA has also been reported in a few patients with genetic generalized epilepsy (GGE) who presented with typical absence seizures (TAS). Our aim was to report the results of long-term follow-up and genetic findings in these patients. METHODS: We investigated all EEGs of adult GGE patients with TAS, and identified 12 patients with GPFA (8.3% of adult GGE patients with TAS). Ten of these patients were available for long-term follow up. Their clinical and electroencephalographic courses and genetic features were investigated. The control group was composed of 24 adult GGE patients who also had TAS, but lacking GPFA with a similar follow-up duration in the same epilepsy center. RESULTS: The mean age at GPFA detection was 33±16.6 (16-71 years) and 80% still had GPFA in their last EEG. The duration of epilepsy and persistence of TAS were both significantly longer in the GPFA group despite a similar follow-up duration. Sixty percent of the GPFA group had consanguineous parents, whereas this rate was only 4.17% in the control group. Seven relatives of the GPFA group also had epilepsy. We could not show any known mutations in two families. At the end of the follow-up, none of the patients with GPFA was dependent in self-care, despite continuing seizures. CONCLUSION: Our study shows that GPFA is an ignored EEG pattern of adult GGE patients with TAS, indicating a long and non-remitting course in almost all of the patients.

The Face of Chronic Migraine Which Has Started to be Clarified.

Recently, information about migraine which is generally characterized with attacks has gradually increased. In some patients with migraine, progression may be observed such that the frequency and time of the attacks are increased and an attack lasts for days. This condition is called chronic migraine (CM). According to the last classification, chronic migraine is defined as headache which occurs 15 days a month or more frequently at least 8 of which show the characteristic properties of migraine or response to migraine-specific treatment. The diagnostic cirteria of chronic migraine, its differences from other chronic daily headaches and the question if it is a migraine form with a high frequency which transforms from episodic migraine or a completely different pathophysiological picture are still contradictory. Clarifying these issues is possible with clinical studies as well as increasing the studies directed to investigate the pathophysiological mechanisms.

Magnetic resonance spectroscopy findings in photosensitive idiopathic generalized epilepsy.

Studies investigating the pathophysiology of epileptic photosensitivity indicate variable involvement of particular brain regions. Our aim was to identify metabolic differences between photosensitive idiopathic generalized epilepsy (IGE) patients and nonphotosensitive IGE patients and normal healthy subjects by using Magnetic Resonance Spectroscopy (MRS). Fourteen patients diagnosed with photosensitive IGE were investigated. The control groups consisted of 14 age- and sex-matched healthy volunteers and 14 IGE patients without photosensitivity. MRS measurements of N-acetylaspartate (NAA), choline-containing compounds (Cho), creatine (Cr) were performed in the frontal and occipital cortex and the thalamus bilaterally using a stimulated echo acquisition mode (STEAM) technique with a voxel size of 20 x 20 x 20 mm. The values of the patients with IGE were compared with those of the normal controls and within subgroups according to the clinical variables by appropriate statistical tests. Photosensitive IGE patients showed significantly decreased concentrations of NAA in the right frontal lobe and left thalamus, decreased NAA/Cr ratio in left thalamus and significantly increased concentrations of Cho/Cr ratio in the right frontal lobe and NAA/Cr in the left occipital lobe when compared to normal controls. Furthermore, left occipital NAA concentration increased and left thalamus NAA/Cr ratios were decreased from the IGE patients without photosensitivity but without reaching statistical significance. Our results support previous MR studies suggesting an asymmetrical neuronal dysfunction in favor of the dominant occipital cortex and thalamus in photosensitive IGE patients.

Autoimmune thyroid encephalopathy presenting with epilepsia partialis continua.

We report the first case of an autoimmune thyroid encephalopathy presenting with multifocal motor status epilepticus. A 37-year-old female patient was admitted with multifocal motor seizures intractable to intravenous status epilepticus treatments, asymmetrical quadriparesis, truncal ataxia and continuous semi-rhythmical jerks. Pathological signal alterations were detected in both precentral cortices in MRI examination. Autoimmune thyroiditis was diagnosed after radiological examinations of the thyroid gland and thyroid function tests. Seizures promptly ceased following intravenous steroid treatment. Immunohistochemistry studies showed mild to moderate neuronal staining with the plasma and CSF samples. Remarkably, autoimmune thyroiditis may present with migrating focal motor status epilepticus. We recommend anti-thyroid antibody screening for multifocal motor status epilepticus cases of unspecified cause.