bluuebunny/crossref_metadata_2025_split huggingface dataset:
The anatomy and embryology of the hypothalamus in relation to hypothalamic hamartomas
Authors: Freeman Jeremy L. 
Published: March 2024

ABSTRACT
The hypothalamus is involved in a variety of autonomic, endocrine, neurological and behavioural functions including temperature, osmostatic and autonomic nervous system regulation, pituitary, thyroid, adrenal and gonadal control, thirst, appetite and weight control, memory and emotional behaviour including aggression and laughter, and biological (circadian) rhythms. The functional anatomy of the hypothalamus and its major afferent and efferent neurological connections are described, with particular reference to hypothalamic hamartomas (HH), gelastic seizures, MRI of the hypothalamus, and potential effects of surgery for HH. Normal development of the hypothalamus is reviewed in relation to models of forebrain development, descriptive hypothalamic embryology and the importance of known transcription factors. Potential environmental antecedents to HH development are discussed, and the significance for sporadic, isolated HH of several syndromes associated with HH is explored.
Epilepsy and hypothalamic hamartoma: look at the hand Pallister‐Hall syndrome
Authors: Kremer Stéphane , Minotti Lorella , Thiriaux Anne , Grand Sylvie , Satre Véronique , Bas Jean‐Francois Le , Kahane Philippe 
Published: March 2024

ABSTRACT
We report the case of a 29‐year‐old patient, who suffered from drug resistant laughing seizures since childhood. The clinical examination was normal, except for sequelae of hand and feet surgery during infancy for post‐axial polydactyly. Cerebral MRI showed a hypothalamic hamartoma. The association of complex limb abnormalities with hypothalamic hamartoma lead to the diagnosis of Pallister‐Hall syndrome.
This syndrome is related to a mutation of gene GLI3, located on chromosome 7p13, and its inheritance is autosomal dominant.
In the case of laughing seizures, a cerebral MRI should be performed to look for a hypothalamic hamartoma. The observation of such lesions indicates the necessity of standard radiographies of the hands and feet, to search for associated abnormalities. These findings might help to recognize a Pallister‐Hall syndrome, thus allowing genetic counseling.
Functional neuroimaging of malformations of cortical development
Authors: Cross Judith Helen 
Published: March 2024

ABSTRACT
Functional neuroimaging over the past 10 years has led to greater insights into the pathophysiology underlying symptomatic epilepsy. Such imaging has been used to localize cerebral dysfunction, predominantly through disturbances in metabolism or blood flow. Techniques available include single photon emission computed tomography (SPECT), positron emission tomography (PET) and functional magnetic resonance imaging (fMRI). Although the use of these diagnostic techniques is widely reported for presurgical evaluation, there has been little work with specific reference to malformations of cortical development.
Anoxic‐epileptic seizures: home video recordings of epileptic seizures induced by syncopes
Authors: Stephenson John , Breningstall Galen , Steer Chris , Kirkpatrick Martin , Horrocks Iain , Nechay Alla , Zuberi Sameer 
Published: March 2024

ABSTRACT
Occasionally, but more often than has been reported, true epileptic seizures are triggered by non‐epileptic syncopes. This combination of syncope and epileptic seizure has been called an anoxic‐epileptic seizure. A few examples of such anoxic‐epileptic seizures, including the induction of status epilepticus, have been reported in books and medical journals, but no video‐recordings have been published. We show here home video recordings of the first three known examples of the transition from the triggering syncope and anoxic seizure, to the subsequent epileptic seizure. In the first two children, a neurally‐mediated syncope, probably mediated by prolonged expiratory apnoea (so‐called breath‐holding spells), induces a long, clonic epileptic seizure with some features of myoclonic absence. In the third example, a compulsive Valsalva in an older autistic child provokes a vibratory tonic epileptic seizure. In addition, we show two further video clips of the most usual type of epileptic seizure induced by syncopes in very young children. In one, the video recording begins after the end of the triggering syncope and shows a rhythmic clonic seizure that includes repetitive vocalizations. The final recoding is of a spontaneous epileptic seizure with features of myoclonic absence: this child had both epilepsy and identical episodes induced by syncopes, that is, anoxicepileptic seizures. Not only paediatricians and paediatric neurologists, but also adult neurologists and epileptologists in general, should be aware of the important clinical scenario of true epileptic seizures induced by syncopes. This phenomenon is not considered in any international classification. (Published with videosequences)
Antiepileptic drugs: indications other than epilepsy
Authors: Spina Edoardo , Perugi Giulio 
Published: March 2024

ABSTRACT
Antiepileptic drugs (AEDs) are increasingly used for the treatment of several non‐epileptic neurological conditions and psychiatric disorders. Most of the information available on the use of these agents in clinical disorders outside epilepsy is from case series, uncontrolled studies or small randomised clinical trials, and their apparent efficacy requires confirmation through well designed, large, phase III trials.
With regard to neurological conditions other than epilepsy, experimental evidence for the efficacy of AEDs is only available for the treatment of patients with trigeminal neuralgia, neuropathic pain syndromes, migraine and essential tremor. Carbamazepine is commonly prescribed as first‐line therapy for patients with trigeminal neuralgia. Gabapentin has been recently marketed for the management of neuropathic pain syndromes, particularly diabetic neuropathy and postherpetic neuralgia. Valproic acid (sodium valproate), in the form of divalproex sodium, is approved for migraine prophylaxis. Primidone can be considered a valuable option for the treatment of essential tremor.
AEDs are also used to treat psychiatric conditions, in particular bipolar disorder. So far, the most commonly utilized AEDs in the treatment of this disorder have been carbamazepine and valproic acid, which have showed an antimanic efficacy and a probable long‐term, mood‐stabilizing effect in many bipolar patients, including those refractory or intolerant to lithium. The availability of a new generation of AEDs has broadened the therapeutic options in bipolar disorder. Lamotrigine, oxcarbazepine, gabapentin and topiramate appear to be promising in the treatment of refractory bipolar disorder, as a monotherapy as well as in combination with traditional mood stabilizers. In addition, newer AEDs appear to have a more favourable tolerability and drug interaction profile as compared to older compounds, so thus improving compliance to treatment.
Épilepsie et retard psychomoteur
Authors: Bednarek Nathalie , Motte Jacques 
Published: March 2024

RÉSUMÉ
Le retard mental peut être associé à une épilepsie. Cette dernière peut constituer la cause du retard des acquisitions (encéphalopathie épileptogène) ou bien n'être qu'une traduction supplémentaire conséquence d'une pathologie neurologique sous jacente commune (encéphalopathie avec épilepsie). Elle n'est alors pas seule responsable du retard. Dans le cadre des encéphalopathies avec épilepsie une démarche diagnostique rigoureuse est nécessaire avec notamment un examen cutané (syndromes neuro‐cutanés), un examen moteur (séquelles anoxo‐ischémiques de la période périnatale), un EEG, une imagerie par résonance magnétique (IRM) cérébrale ainsi que la recherche d'anomalies associées (cardiaque, rénale…). D'autre part il existe des encéphalopathies épileptogènes telles que les syndromes liés à l'âge : syndrome hémiconvulsions, hémiplégie, épilepsie (HHE) ; syndrome de Rasmussen, épilepsie myoclonique sévère du nourrisson (syndrome de Dravet), épilepsie myoclono‐astatique (Doose) que nous développerons comme exemples. L'âge, le type de crises et l'EEG sont utiles pour le diagnostic dans ce cas, les autres examens étant généralement peu contributifs. Retard et épilepsie sont souvent associés et la première étape du diagnostic est d'essayer de comprendre si l'épilepsie est une cause active du désordre cognitif ou non, afin d'affiner la démarche étiologique mais aussi d'adapter la prise en charge thérapeutique.
Les épilepsies myocloniques progressives : mythe ou réalité ?
Authors: Genton Pierre , Bureau Michelle 
Published: March 2024

RÉSUMÉ
Les épilepsies myocloniques progressives (EMP) sont des maladies rares, et leur individualisation comme catégorie diagnostique et pronostique, bien qu'elle ait été reconnue par la dernière proposition de classification de la Ligue internationale contre l'épilepsie, peut sembler bien théorique à des cliniciens qui ont peu de chances d'en rencontrer dans leur pratique. Les EMP se définissent par l'association : 1) d'une épilepsie de type généralisé (bien que des crises focales soient possibles dans certaines étiologies), 2) d'un syndrome myoclonique souvent invalidant et 3) d'autres atteintes neurologiques (ataxie, démence, atteintes sensorielles), qui varient énormément en fonction de l'étiologie. Il s'agit en effet d'un groupe hétérogène de maladies répondant à des étiologies diverses. Leur prévalence varie en fonction du contexte ethnique et elles peuvent être relativement fréquentes sous certains climats, en raison de facteurs génétiques (isolat et/ou consanguinité, par exemple, pour les formes liées à une transmission récessive). Les anomalies génétiques et biochimiques responsables des EMP sont de mieux en mieux connues. Il faut, de nos jours, aborder le diagnostic des EMP de manière rationnelle, en tenant compte du contexte ethnique et génétique, de l'âge de survenue et du poids respectif des différents symptômes. Des outils thérapeutiques originaux sont en cours de développement et les traitements purement symptomatiques disponibles actuellement sont efficaces s'ils sont bien utilisés. Il est donc possible de reconnaître les EMP comme un groupe de maladies s'exprimant préférentiellement soit par une épilepsie, soit par un mouvement anormal, soit encore par des symptômes neurologiques ou cognitifs, et de prendre en charge ces affections rares de manière logique et globale.
Epilepsy in middle‐aged and elderly people: a three‐year observation
Authors: Paradowski Boguslaw , Zagrajek Mieszko M. 
Published: March 2024

ABSTRACT
An analysis of the medical documentation and investigation of 130 cases of epilepsy diagnosed in a group of people over 50 years of age (average: 65.4 years) revealed that the most common type of seizure in the group studied was partial (66.2%), followed by seizures with secondary generalization (33.8%). Epilepsy was caused by cerebrovascular disease (50.8%) considerably more often in patients over 74 years of age, craniocerebral trauma in patients addicted to alcohol (13.1%), especially those under 65 years of age, primary or metastatic neoplastic disease (10.7%), and others. The authors wish to draw attention to the leukoaraiosis factor, which might be the proepileptogenic cause of epilepsy recognized in the group of patients over 74 years of age (56.5%) and is much more frequent in this group than in the group of patients under 65 years of age (1.6%). Moreover, some drugs, such as L‐dopa and Baclofen, might have been related to the epileptic seizures. In 29 patients (22.3%) the definite cause of late‐onset epilepsy was unknown. The authors suggest in such cases, both follow – up tomographic examination and careful clinical examinations. In the study group of patients with initially unknown seizure etiology, some diseases, such as cerebral tumor or colon and pancreatic neoplasm, were diagnosed during follow‐up examination. These processes were revealed several months after the first epileptic seizure.
Can drug resistance in epilepsy be minimized? Challenging commonly held beliefs
Authors: Perucca Emilio 
Published: March 2024

ABSTRACT
Until more efficacious antiepileptic drugs (AEDs) that can tackle the challenge of drug‐refractory epilepsy are developed, the best way to minimize inadequate seizure control is to exploit at best available treatments. There are however, discrepancies between commonly held opinions on several aspects of drug therapy, and the body of scientific evidence which exists to support them. This article highlights a few examples, discussing evidence that, contrary to common belief, (i) a significant proportion of patients with newly diagnosed epilepsy respond to concentrations of AEDs below the “therapeutic range” quoted in the literature; (ii) only a small group of patients unresponsive to low to moderate AED dosages become seizure‐free after increasing dosage up to the limit of tolerability; (iii) knowledge of mechanisms of AED action can aid in the rational use of AEDs in the clinic; (iv) monitoring serum levels of new generation AEDs can be usefully exploited to improve management, and (v) at least in a subgroup of patients, successful epilepsy surgery cannot be regarded as curative, because seizure control may be dependent upon continuation of AED therapy. It is hoped that increased awareness of these issues could eventually contribute not only to improved clinical outcome, but also to high quality studies in many areas where gaps in knowledge prevent application of truly evidence‐based management.
Epilepsy and common comorbidities: improving the outpatient epilepsy encounter
Authors: Gilliam Frank G. , Mendiratta Anil , Pack Alison M. , Bazil Carl W. 
Published: March 2024

ABSTRACT
Epilepsy is a chronic disorder that has been associated with other specific health problems. Evidence from recent clinical and basic investigations indicates that aspects of cerebral dysfunction associated with a lowered seizure threshold may also predispose toward other disorders such as depression, cognitive impairment, sleep disorders, and migraine. Similarly, certain types of brain injury may also increase the risk of adverse antiepileptic drug (AED) effects. For example, a history of febrile seizures is associated with a three fold increase in the occurrence of negative psychiatric effects of two newer AEDs. Poor fitness and obesity are also reported at higher rates in epilepsy. Some comorbid conditions in epilepsy, such a depression and anxiety, may have a greater influence on subjective health status than does seizure rate. Management strategies employed in the outpatient clinic to maximize overall health outcomes should include screening and treatment for the commonly coexistent conditions in persons with epilepsy.
EEG and seizure exacerbation induced by carbamazepine in Panayiotopoulos syndrome
Authors: Kikumoto Kenichi , Yoshinaga Harumi , Oka Makio , Ito Minako , Endoh Fumika , Akiyama Tomoyuki , Ohtsuka Yoko 
Published: March 2024

ABSTRACT
We report on a 4‐year 8‐month‐old boy with Panayiotopoulos syndrome who showed atypical evolution with newly developed absence seizures and EEG exacerbation induced by carbamazepine. Soon after the introduction of carbamazepine, EEGs began to worsen, and finally absence seizures and myoclonic seizures appeared. Immediately after we discontinued carbamazepine, the seizures disappeared and the EEG improved. Carbamazepine may induce unusual electroclinical features, electrophysiologically explained by bilateral synchrony. This case provides more evidence of the close links between Panayiotopoulos syndrome and benign childhood epilepsy with centrotemporal spikes.
Sleep‐related laryngospasm: a video‐polysomnographic recording
Authors: Iriarte Jorge , Urrestarazu Elena , Alegre Manuel , Goñi Concepción , Viteri César , Artieda Julio 
Published: March 2024

ABSTRACT

We present a case of laryngospasm in a 12‐year‐old male who experienced sudden, nocturnal episodes of breathing difficulties and agitation. Apart from laryngospasm, the main differential diagnoses included frontal seizures, sleep‐related choking syndrome, sleep asthma, sleep apnoea and REM sleep behaviour disorder. The video and the EEG recordings supported the diagnosis of laryngospasm. The pH‐metry confirmed the existence of reflux. Its treatment successfully controlled the episodes. This case illustrates, with a typical video recording, this infrequent type of paroxysmal event with an important differential diagnosis.
[Published with video sequences]
Non‐epileptic clinical diagnoses in children referred for an outpatient EEG using video monitoring
Authors: Apakama Okwuchi , Appleton Richard 
Published: March 2024

ABSTRACT
Simultaneous video (closed circuit television [CCTV]) and EEG recordings are important in the differentiation of epileptic and non‐epileptic paroxysmal episodes and in the classification of epilepsy syndromes. An additional benefit from the observation of the child on CCTV is the possible identification of specific clinical, including genetic, conditions. This three‐year prospective study of 2780 consecutive children undergoing routine EEG investigations identified 17 conditions that had not previously been diagnosed by the clinicians who had requested the EEG.
Status epilepticus in a patient with fragile X syndrome: electro‐clinical features and peri‐ictal neuroimaging
Authors: Di Bonaventura Carlo , Mari Francesco , Pierallini Alberto , Mecarelli Oriano , Randi Franco , Manfredi Mario , Prencipe Massimiliano , Giallonardo Anna Teresa 
Published: March 2024

ABSTRACT
Fragile X syndrome (Fra‐X) is a common cause of mental retardation that can be associated with partial epilepsy characterized by a variety of electro‐clinical features. A wide spectrum of interictal activities are reported, although no data regarding ictal EEG activity have as yet been published. Drug‐resistant seizures are uncommon, and the occurrence of clustering seizures or status epilepticus has only been reported anecdotally. We describe a Fra‐X patient with refractory partial epilepsy related to a malformation of cortical development who experienced a partial status epilepticus that was well documented by video‐EEG and MRI. We report the electro‐clinical features and peri‐ictal neuroimaging data.
Gelastic seizures involving the right parietal lobe
Authors: Shin Hee‐Young , Hong Seung Bong , Joo Eun Yeon , Tae Woo Suk , Han Sun Jung , Cho Jae Wook , Seo Dae Won , Kim Sun Hyung , Lee Jong‐Min , Kim Sun I 
Published: March 2024

ABSTRACT
Gelastic seizures have been described in various epilepsies arising from the temporal or frontal lobes, although the most commonly encountered form is related to the presence of an hypothalamic hamartoma. We report a patient with gelastic seizures involving the right parietal lobe. Our patient, a 32‐year‐old man, underwent video‐EEG monitoring, interictal and ictal brain SPECTs during gelastic seizures. Subtraction ictal SPECT co‐registered to MRI (SISCOM), was performed to localize any ictal hyperperfusion during these gelastic seizures. The seizures consisted of brief staring followed by smiling and laughing. Electroencephalography during the gelastic seizures showed rhythmic sharp waves in the right parietal lobe. SISCOM showed ictal hyperperfusion in the right parietal lobe and medial portions of right cerebellum. Our findings suggest that the right parietal lobe may actively participate in the particular epileptogenic network generating gelastic seizures.
Levetiracetam‐induced myoclonic status epilepticus in myoclonic‐astatic epilepsy: a case report
Authors: Kröll‐Seger Judith , Mothersill Ian William , Novak Simon , Sälke‐Kellermann Ritva Anneli , Krämer Günter 
Published: March 2024

ABSTRACT
We report on a 3‐year‐old boy with myoclonic‐astatic epilepsy who developed myoclonic status epilepticus with continuous twitching of the face and unresponsiveness under monotherapy with levetiracetam. Recently, a nonconvulsive status epilepticus in an adult epilepsy patient has also been described. Our observation points to the possibility of a causal relationship between the induction of myoclonic status by levetiracetam in certain patients with Doose's syndrome. However, a spontaneous evolution cannot be excluded. Levetiracetam is a well‐known drug for the control of myoclonic seizures. A controlled study would provide a better understanding of any possible aggravating role in certain forms of myoclonic‐astatic epilepsy.
Developmental delay and epilepsy
Authors: Bednarek Nathalie , Motte Jacques 
Published: March 2024

ABSTRACT
Developmental delay can be associated with epilepsy. Epilepsy might be either the cause of the delay of acquisitions (epileptogenic encephalopathy) or only one additional manifestation, the consequence of the underlying neurological pathology (encephalopathy with epilepsy); it is therefore not the only factor responsible for delay. Within the framework of encephalopathies with epilepsy a rigorous diagnosis is necessary with, in particular a cutaneous examination (neuro‐cutaneous syndromes), a precise clinical examination (anoxo‐ischaemic sequelae of the perinatal period), an EEG, a cerebral magnetic resonance imaging (MRI) as well as the search for associated abnomalities (cardiac, renal…). There are also epileptogenic encephalopathies such as age‐related syndromes: Hemiconvulsions‐Hemiplegia‐Epilepsy syndrome; Rasmussen's syndrome; Dravet's syndrome; myoclono‐astatic epilepsy (Doose). Age at onset and type of seizures, as well as ictal and interictal EEG finding provide valuable hints for a specific diagnosis, while other investigation are usually not contributive. Developmental delay and epilepsy are frequently associated. One of the first steps to diagnosis consists in trying to establish the eventual causal role of the epilepsy. Answering this question may prove to be of primary importance for the choice of a therapeutic strategy and/or further etiological investigations.
Epilepsy and neurodegenerative diseases in adults: a clinical review
Authors: Vercueil Laurent 
Published: March 2024

ABSTRACT
Neurodegenerative disorders in adults are progressively recognized as one of the major causes of epilepsy. Improved health care, resulting in increased longevity, will unavoidably lead to an increase of epilepsy cases in the elderly. For example, in Alzheimer's disease, almost 10% of the patients present with seizures, eventually necessitating an antiepileptic treatment. We review available data on epidemiology, diagnosis and treatment of the epilepsies when associated with major neurodegenerative disorders. Controlled, prospective studies are lacking.
The concept of the epileptogenic zone: a modern look at Penfield and Jasper's views on the role of interictal spikes
Authors: Palmini Andre 
Published: March 2024

ABSTRACT
In modern times, the determination of the epileptogenic zone demands a sophisticated combination of neurophysiological and neuroimaging tools. Historically however, the concept of the epileptogenic zone was based on and has evolved from the recording of interictal spikes, both in the scalp electroencephalogram (EEG) and, particularly, in the acute electrocorticogram (ECoG). Because the role of interictal spikes is still not always clear in the decision‐making process of epilepsy surgery, the relevance of these spikes in the definition of the epileptogenic zone is reviewed here, starting with the pioneering work of the Montreal school.
A case of auditory auras: application of general principles to define and localize the epileptogenic zone
Authors: Gupta Ajay 
Published: March 2024

ABSTRACT
An illustrative case of auditory aura and complex partial seizures is presented to highlight challenges in the accurate localization of the epileptogenic zone. Application and interpretation of various diagnostic tools is discussed in this case using the North American approach to the localization of the epileptogenic zone. Whenever possible, the differences and similarities between the North American and the French/Italian approach for the localization of the epileptogenic zone are discussed.