bluuebunny/crossref_metadata_2025_split huggingface dataset:
Increased clinical anticipation with maternal transmission in benign adult familial myoclonus epilepsy in Japan
Authors: Hitomi Takefumi , Kobayashi Katsuya , Jingami Naoto , Nakagawa Tomokazu , Imamura Hisaji , Matsumoto Riki , Kondo Takayuki , Chin Kazuo , Takahashi Ryosuke , Ikeda Akio 
Published: August 2019

ABSTRACTWe recently reported clinical anticipation in Japanese families with benign adult familial myoclonus epilepsy (BAFME). However, it remains unknown whether clinical anticipation is predominantly associated with paternal or maternal transmission. We investigated the relationship between gender of the transmitting parent and clinical anticipation in nine BAFME families. Clinical anticipation regarding either cortical tremor or generalised seizures was observed in all 12 parent/child pairs (8 mother/child pairs and 4 father/child pairs). Moreover, a higher degree of clinical anticipation was associated with maternal transmission than with paternal transmission (p=0.03). Although a causative gene for BAFME still remains unknown, our finding suggests that BAFME and diseases with unstable expanding repeats, including those in non‐coding regions, might share a similar molecular mechanism because such diseases often show clinical anticipation with maternal transmission.
Paediatric epilepsy surgery in the posterior cortex: a study of 62 cases
Authors: Liava Alexandra , Mai Roberto , Tassi Laura , Cossu Massimo , Sartori Ivana , Nobili Lino , Lo Russo Giorgio , Francione Stefano 
Published: August 2019

Past surgical series have emphasized the diagnostic complexity of posterior cortex epilepsy. Available data are sparse, especially in children, and most published series report a high number of surgical failures and post‐operative neurological deficits. In this article, we present a paediatric cohort of 62 children who underwent surgery for drug resistant posterior cortex epilepsy before the age of 16 years with a mean post‐operative follow‐up of 6.94 years (range: 2–16). Mean age at epilepsy onset was 3.2 years and 28 children (45%) had onset before 1 year of age. The mean age at surgery was 7.9 years (range: 1–16). Daily seizures were present in 63% of children. MRI was positive in 58 cases (93.5%) and invasive stereo‐EEG was judged mandatory in 24/62 (39%) of patients.Surgery was confined to the parietal lobe in 11 children, the occipital lobe in 8, the occipito‐parietal region in four, the occipito‐temporal region in 18, and involved both the temporal and parietal lobes in the remaining 21. Following surgery, 53 subjects (85.5%) remained seizure‐free and among those who underwent a SEEG procedure, 75% achieved seizure freedom. Focal cortical dysplasia was the most frequent histopathological diagnosis (50%), followed by tumoural (24%) and gliotic lesions (14.5%).An older age at epilepsy onset, the presence of a rather restricted epileptogenic area, and a complete resection of the epileptogenic zone were predictive of a favourable surgical outcome. These results demonstrate that a good surgical outcome is possible in children with drug resistant posterior cortex epilepsy. Accurate analysis of the chronology of ictal semiology and electrophysiological features, viewed in the context of the complete electroclinical pattern, provides a topographical orientation for posterior cortex epilepsy and, together with the presence of a lesion detectable on imaging, may improve the rate of surgical success of posterior cortex epilepsy at paediatric age.
Febrile seizures and genetic epilepsy with febrile seizuresplus(GEFS+)
Authors: Camfield Peter , Camfield Carol 
Published: August 2019

AbstractAim. To review the literature about febrile seizures and GEFSpluswith special emphasis on management and outcome.Methods. Selected literature review.Results. Febrile seizures are the most common convulsive event in humans, occurring in 2–6% of the population. The aetiology is complex with strong evidence for a heterogeneous genetic predisposition interacting with fever of any cause, with certain viral infections having a greater effect. A large amount of literature has established that febrile seizures have no long‐term consequences on cognition or behaviour. Unfortunately, about 40% of children with a first febrile seizure will have a recurrence. The strongest predictor of recurrence is age <14–16 months at the time of the first febrile seizure. Epilepsy follows febrile seizures in ∼3% cases, with the concepts of simple and complex febrile seizures providing relatively weak prediction. Very prolonged febrile seizures may lead to mesial temporal sclerosis and temporal lobe epilepsy although the degree of risk remains uncertain. Investigations beyond establishing the cause of the provoking fever are nearly always unnecessary. Treatment is mainly reassurance and there is some evidence that parents eventually “come to grips” with the fear that their children are dying during a febrile seizure. Antipyretic medications are remarkably ineffective to prevent recurrences. Daily and intermittent prophylactic medications are ineffective or have unacceptable side effects or risks. “Rescue” benzodiazepines may prevent prolonged recurrences for selected patients with a first prolonged febrile seizure although this has not been proven. Genetic epilepsy with febrile seizuresplus(GEFS+) is a complex autosomal dominant disorder usually caused by mutations inSCN1A(a voltage‐gated sodium channel). One third of patients have febrile seizures only; two thirds have a variety of epilepsy syndromes, both focal and generalized.Conclusions. Febrile seizures may distress parents but rarely have any long‐term consequences. Reassurance is the only treatment for the vast majority. Identifying patients with GEFSplusmay lead to further investigations and counselling.
Good outcome in adult‐onset Rasmussen's encephalitis syndrome: is recovery possible?
Authors: Poloni Tino Emanuele , Galli Alberto , Pichiecchio Anna , di Lodovico Laura , Ceroni Mauro 
Published: August 2019

AbstractA healthy 29‐year‐old man suffered from adult‐onset epilepsy, characterized by polymorphic progressive seizures resistant to AEDs, leading to unilateral cortical deficits and atrophy of the left hemisphere. The disorder satisfied the clinical, EEG, and imaging criteria for a diagnosis of Rasmussen's encephalitis. During the acute phase of the disease, intrathecal synthesis of specific anti‐CMV IgG was identified. This case was characterized by a very mild course and remission of seizures following a treatment with high‐dose intravenous polyvalent immunoglobulins containing a high anti‐CMV titre. The patient remained symptomless for more than 15 years from clinical onset and more than eight years after the discontinuation of immunological therapy. In agreement with a recent report, this case confirms that adult‐onset Rasmussen's encephalitis syndrome may occur with a very mild clinical picture and persistent remission. In this case, the specific index for intrathecal production of anti‐CMV antibodies suggested possible CMV involvement, indicating specific immuno‐therapy as a treatment choice.
Prescription of emergency antiepileptic medication after a first childhood seizure: analysis of routine administrative data
Authors: Chin Richard FM , Ajetunmobi Omotomilola , Weir Christopher J , Wood Rachael 
Published: August 2019

AbstractAim. UK guidelines do not recommend prescribing emergency antiepileptic drugs after first simple febrile seizures or for single afebrile seizures. Non‐adherence to the guidelines could result in substantial health service cost.Methods. Scottish national hospital discharge records were used to identify children aged one month to 4 years admitted for a first febrile seizures or single afebrile seizures between April 2009 and March 2012. Prescriptions for antiepileptic drugs within 12 months of index admission were identified on the national community prescribing database by matching unique patient identifiers.Results. There were 1,978 and 663 children admitted for febrile seizures and single afebrile seizures, respectively. One percent of children admitted with febrile seizures and 1.7% with single afebrile seizures had a subsequent community prescription record for emergency antiepileptic drugs within 12 months of index admission. Total cost of emergency antiepileptic drugs following febrile seizures and single afebrile seizures for the study period was just over £900.Conclusion. Health care providers and policy makers can be reassured that emergency antiepileptic drugs are not being inappropriately overprescribed for febrile seizures and single afebrile seizures.
Focal inhibitory seizure with prolonged deficit in adult Sturge‐Weber syndrome
Authors: Aupy Jerome , Bonnet Charlotte , Arnould Jean‐Simon , Fernandez Philippe , Marchal Cecile , Zanotti‐Fregonara Paolo 
Published: August 2019

AbstractSturge‐Weber syndrome is a sporadic congenital neurocutaneous disorder often related to varying degrees of motor impairment. The phenomenon of prolonged ictal paresis is a rare seizure sign that can be due to lesions affecting the centro‐parietal lobe. Focal inhibitory motor seizures can be difficult to differentiate from other clinical entities such as stroke, migraine or postictal paresis. We describe the case of a 40‐year‐old patient suffering from Sturge‐Weber syndrome, admitted due to prolonged right‐sided hemiparesis following a usual seizure. Repeated EEGs during the prolonged deficit showed only intermittent left fronto‐parietal sharp waves. 99mTc HMPAO‐brain SPECT performed seven days after the last seizure showed a vast area of parieto‐occipital hyperperfusion in the left hemisphere. Aggressive antiepileptic therapy dramatically improved the clinical symptoms and scintigraphic images, which corroborated the diagnosis of ictal paresis. This case highlights the role of SPECT in the evaluation of Sturge‐Weber syndrome, not only to investigate progressive neurological deterioration, but also exacerbation of seizures or prolonged neurological deficits. In fact, it may be possible to document ongoing epileptic activity using SPECT, despite a non‐contributory EEG, which may be of help in adapting a therapeutic strategy.
Multiphasic presentation of Rasmussen's encephalitis
Authors: Avberšek Andreja , Miserocchi Anna , McEvoy Andrew W. , Patel Ayesha V. , Aronica Eleonora , Blümcke Ingmar , Jacques Thomas S. , Acheson James , Thom Maria , Sisodiya Sanjay M. 
Published: August 2019

AbstractRasmussen's encephalitis is a rare, chronic inflammatory disorder of unknown cause, characterised by drug‐resistant focal epilepsy that may rarely present in adolescence or adulthood. We present a case of Rasmussen's encephalitis with prominent recurrent fluctuation in symptoms and well‐documented fluctuating changes on MRI, adding to the spectrum of diversity of Rasmussen's encephalitis.
Minimally resective epilepsy surgery in MRI‐negative children
Authors: Hyslop Ann , Miller Ian , Bhatia Sanjiv , Resnick Trevor , Duchowny Michael , Jayakar Prasanna 
Published: August 2019

AbstractAim. Performing epilepsy surgery on children with non‐lesional brain MRI often results in large lobar or multilobar resections. The aim of this study was to determine if smaller resections result in a comparable rate of seizure freedom.Methods. We reviewed 25 children who had undergone focal corticectomies restricted to one aspect of a single lobe or the insula at our institution within a 5.5‐year period. Data collected in the comprehensive non‐invasive pre‐surgical evaluation (including scalp video‐EEG, volumetric MRI, functional MRI, EEG source localization, and SPECT and PET), as well as from invasive recordings performed in each patient, was reviewed. Data from each functional modality was identified as convergent or divergent with the epileptogenic zone using image coregistration. Specific biomarkers (from extra‐operative and invasive testing) previously indicated to be indicative of focal epileptogenicity were used to further tailor each resection to an epileptogenic epicentre. Tissue pathology and postoperative outcomes were obtained from all 25 patients.Results. Two years postoperatively, 15/25 (60%) children were seizure‐free, three (12%) experienced >90% reduction in seizure frequency, two (8%) had a 50–90% reduction in seizure frequency, and the remaining five (20%) had no change in seizure burden. There was no significant difference in outcome based on numerous pre‐ and postoperative factors including location of resection, the number of preoperative functional tests providing convergent data, and tissue pathology.Conclusion. In MRI‐negative children with focal epilepsy, an epileptogenic epicentre within a larger epileptogenic zone can be identified when specific biomarkers are recognized on non‐invasive and invasive testing. When such children undergo resection of a small, well‐defined epileptogenic epicentre, favourable outcomes can be achieved.
Information‐seeking behaviour for epilepsy: an infodemiological study of searches for Wikipedia articles
Authors: Brigo Francesco , Otte Willem M. , Igwe Stanley C. , Ausserer Harald , Nardone Raffaele , Tezzon Frediano , Trinka Eugen 
Published: August 2019

AbstractMillions of people worldwide use the internet daily as a source of health information. Wikipedia is a popular free online encyclopaedia used by patients and physicians to search for health‐related information. Our aim was to evaluate information‐seeking behaviour of English‐speaking internet users searching Wikipedia for articles related to epilepsy and epileptic seizures. Using Wiki Trends, which provides quantitative information on daily viewing of articles, data on global search queries for Wikipedia articles related to epilepsy and seizures were analysed. The daily Wikipedia article views on syncope, psychogenic non‐epileptic seizures, migraine, and multiple sclerosis served as comparative data. The period of analysis covered was from January 2008 to December 2014. Overall, the Wikipedia article “epilepsy and driving” was found to be more frequently visited than the articles “epilepsy and employment” or “epilepsy in children”. Since January 2008, the Wikipedia article “multiple sclerosis” was more often visited compared to the articles “epilepsy”, “syncope”, “psychogenic non‐epileptic seizures” or “migraine”; the article “epilepsy” ranked 3,779 and was less frequently visited than “multiple sclerosis”, ranked at 571, in traffic on Wikipedia. The highest peak in search volume for the article “epilepsy” coincided with the news of a celebrity having seizures. Fears and worries about epileptic seizures, their impact on driving and employment, and news about celebrities with epilepsy might be major determinants in searching Wikipedia for information.
The ketogenic diet in two paediatric patients with refractory myoclonic status epilepticus
Authors: Caraballo Roberto Horacio , Valenzuela Gabriela Reyes , Armeno Marisa , Fortini Sebastian , Mestre Graciela , Cresta Araceli 
Published: August 2019

AbstractAim. We describe two patients with refractory myoclonic status epilepticus treated with the ketogenic diet.Methods. Between May 1, 2014 and January 1, 2015, two patients who met the diagnostic criteria for refractory myoclonic status epilepticus, seen at our department, were placed on the ketogenic diet and followed for a minimum of six months.Results. One patient with myoclonic epilepsy of unknown aetiology had a 75–90% seizure reduction, and the other with progressive encephalopathy associated with myoclonic epilepsy had a 50% seizure reduction. Both patients retained good tolerability for the diet. At the last control, one patient had isolated myoclonias and EEG showed occasional generalized spike‐and‐polyspike waves; the patient is now successfully attending kindergarten. The quality of life of the second patient improved significantly. In both cases, the number of antiepileptic drugs was reduced.Conclusion. The ketogenic diet is an effective and well‐tolerated treatment option for patients with refractory myoclonic status epilepticus and should be considered earlier in the course of treatment.
Duration of valproic acid monotherapy correlates with subclinical thyroid dysfunction in children with epilepsy
Authors: Ilić Violeta , Bogićević Dragana , Miljković Branislava , Ješić Maja , Kovačević Marijana , Prostran Milica , Kovačević Sandra Vezmar 
Published: August 2019

AbstractAim. To identify potential risk factors for the development of subclinical hypothyroidism following long‐term valproic acid monotherapy in children with epilepsy.Methods. Serum levels of thyroid‐stimulating hormone, free thyroxine, free triiodothyronine, thyreoglobulin antibodies, and thyroid peroxidase antibodies were determined in 41 patients and in 41 sex‐ and age‐matched healthy children.Results. Mean valproic acid treatment duration was 2.80±1.96 years. The valproic acid group had higher serum thyroid‐stimulating hormone (p<0.001) and free triiodothyronine (p<0.05) levels compared to the control group. Serum thyroid‐stimulating hormone and free triiodothyronine were above the upper limit for healthy controls in 34% and 32% of patients, respectively, and no clinical features of thyroid dysfunction were observed. Duration of valproic acid monotherapy for less than four years was a risk factor for elevated thyroid‐stimulating hormone levels.Conclusion. One third of children with normal range serum valproic acid levels may have elevated serum thyroid‐stimulating hormone and free triiodothyronine levels, especially in the first four years of treatment.
SCARB2/LIMP2 deficiency in action myoclonus‐renal failure syndrome
Authors: Dibbens Leanne , Schwake Michael , Saftig Paul , Rubboli Guido 
Published: August 2019

AbstractAction myoclonus–renal failure syndrome (AMRF) is an autosomal recessive progressive myoclonus epilepsy (PME) associated with renal dysfunction that appears in the second or third decade of life and that is caused by loss‐of‐function mutations in the SCARB2 gene encoding lysosomal integral membrane protein type 2 (LIMP2). Recent reports have documented cases with PME associated with SCARB2 mutations without renal compromise. Additional neurological features can be demyelinating peripheral neuropathy, hearing loss and dementia. The course of the disease in relentlessly progressive. In this paper we provide an updated overview of the clinical and genetic features of SCARB2‐related PME and on the functions of the LIMP2 protein.
Sialidoses
Authors: Franceschetti Silvana , Canafoglia Laura 
Published: August 2019

AbstractSialidoses are autosomal recessive disorders caused by NEU1 gene mutations and are classified on the basis of their phenotype and onset age. Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as “cherry red spot‐myoclonus syndrome” develop myoclonic epilepsy, visual impairment and ataxia in the second or third decade of life. The diagnosis is usually suggested by increased urinary bound sialic acid excretion. We recently described genetically diagnosed patients with a specially mild phenotype, no retinal abnormalities and normal urinary sialic acid. This observation suggests that genetic analysis or the demonstration of the neuraminidase enzyme deficiency in cultured fibroblasts are needed to detect and diagnose mildest phenotypes.
Myoclonus epilepsy in mitochondrial disorders
Authors: Lamperti Costanza , Zeviani Massimo 
Published: August 2019

AbstractMitochondrial disorders is a group of clinical entities associated with abnormalities of the mitochondrial respiratory chain (MRC), which carries out the oxidative phosphorylation (OXPHOS) of ADP into ATP. As the MRC is the result of genetic complementation between two separate genomes, nuclear and mitochondrial, OXPHOS failure can derive from mutations in either nuclear‐encoded, or mitochondrial‐encoded, genes. Epilepsy is a relatively common feature of mitochondrial disease, especially in early‐onset encephalopathies of infants and children. However, the two most common entities associated with epilepsy include MERRF, for Myoclonic Epilepsy with Ragged Red Fibers, and AHS, or Alpers‐Huttenlocher syndrome, also known as hepatopathic poliodystrophy. Whilst MERRF is a maternally inherited condition caused by mtDNA mutations, particularly the 8344A>G substitution in the gene encoding mt‐tRNALys, AHS is typically caused by recessive mutations in POLG, encoding the catalytic subunit of polymerase gamma, the only mtDNA polymerase in humans. AHS is the most severe, early‐onset, invariably fatal syndrome within a disease spectrum, which also include other epileptogenic entities, all due to POLG mutations and including Spino‐cerebellar Ataxia and Epilepsy (SCAE). This review reports the main clinical, neuroimaging, biochemical, and molecular features of epilepsy‐related mitochondrial syndrome, particularly MERRF and AHS.
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis
Authors: Ferlazzo Edoardo , Striano Pasquale , Italiano Domenico , Calarese Tiziana , Gasparini Sara , Vanni Nicola , Fruscione Floriana , Genton Pierre , Zara Federico 
Published: August 2019

AbstractAutosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis is an extremely rare condition, so far reported in a single family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic‐clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. Genetic study allowed to identify a homozygous nonsynonymous mutation in CERS1, the gene encoding ceramide synthase 1, a transmembrane protein of the endoplasmic reticulum (ER), catalyzes the biosynthesis of C18‐ceramides. The mutation decreased C18‐ceramide levels. In addition, downregulation of CerS1 in neuroblastoma cell line showed activation of ER stress response and induction of proapoptotic pathways. This observation demonstrates that impairment of ceramide biosynthesis underlies neurodegeneration in humans.