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Paroxysmal Nonepileptic Events in Glut1 Deficiency.

ABSTRACT: View Supplementary Video Movement disorders are a major feature of Glut1 deficiency. As recently identified in adults with paroxysmal exercise-induced dystonia, similar events were reported in pediatric Glut1 deficiency. In a case series, parent videos of regular motor state and paroxysmal events were requested from children with Glut1 deficiency on clinical follow-up. A questionnaire was sent out to 60 families. Videos of nonparoxysmal/paroxysmal states in 3 children illustrated the ataxic-dystonic, choreatiform, and dyskinetic-dystonic nature of paroxysmal events. Fifty-six evaluated questionnaires confirmed this observation in 73% of patients. Events appeared to increase with age, were triggered by low ketosis, sleep deprivation, and physical exercise, and unrelated to sex, hypoglycorrhachia, SLC2A1 mutations, or type of ketogenic diet. We conclude that paroxysmal events are a major clinical feature in Glut1 deficieny, linking the pediatric disease to adult Glut1D-associated exercise-induced paroxysmal dyskinesias.

SUBMITTER: Klepper J

PROVIDER: S-EPMC5157724 | biostudies-literature | 2016 Nov-Dec

REPOSITORIES: biostudies-literature

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Paroxysmal Nonepileptic Events in Glut1 Deficiency.

Klepper Joerg J Leiendecker Baerbel B Eltze Christin C Heussinger Nicole N

Movement disorders clinical practice 20160708 6

View Supplementary Video Movement disorders are a major feature of Glut1 deficiency. As recently identified in adults with paroxysmal exercise-induced dystonia, similar events were reported in pediatric Glut1 deficiency. In a case series, parent videos of regular motor state and paroxysmal events were requested from children with Glut1 deficiency on clinical follow-up. A questionnaire was sent out to 60 families. Videos of nonparoxysmal/paroxysmal states in 3 children illustrated the ataxic-dyst ...[more]

PMID: 28042592

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Longstanding Paroxysmal Dyskinesia in GLUT1 Deficiency Syndrome.

Project description: Not available

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Paroxysmal eye-head movements in Glut1 deficiency syndrome.

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Paroxysmal belching: Epileptic or nonepileptic?

Project description:The prevalence and localizing value of ictal belching are yet unknown. We present the case of a patient with medically refractory focal epilepsy with simple and complex partial seizures, as well as generalized seizures. One presumed seizure type comprised frequent episodes of repetitive belching. Video-EEG monitoring during these attacks showed no ictal changes. The belching episodes were inducible and terminable through suggestion. The diagnosis of excessive supragastric belching, a previously described psychogenic condition, was made.

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Paroxysmal Nonepileptic Events in Children: A Video Gallery and a Guide for Differential Diagnosis.

Project description:Purpose of reviewParoxysmal nonepileptic events (PNEEs) are a heterogenous group of time-limited events, characterized by changes in motor or behavioral activity beginning abruptly and ending in a short time. Owing to their manifestation, these conditions can clinically simulate seizures.Recent findingsThese episodes belong to different categories, including syncopal events, psychiatric disorders, and movement disorders. PNEEs are a common cause of diagnostic mistakes and families' concerns, and the risk of useless and sometimes even injurious treatment is considerable. The high frequency of these manifestations in clinical practice makes PNEEs a diagnostic challenge for clinicians.SummaryThis review is focused on the distinctive clinical findings and treatment of PNEEs. Illustrative video recordings of the PNEEs and a video collection as a support tool for differential diagnosis are provided.

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Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.

Project description:ObjectiveOn the basis of our previous work with triheptanoin, which provides key substrates to the Krebs cycle in the brain, we wished to assess its therapeutic effect in patients with glucose transporter type 1 deficiency syndrome (GLUT1-DS) who objected to or did not tolerate ketogenic diets.MethodsWe performed an open-label pilot study with three phases of 2 months each (baseline, treatment and withdrawal) in eight patients with GLUT1-DS (7-47 years old) with non-epileptic paroxysmal manifestations. We used a comprehensive patient diary to record motor and non-motor paroxysmal events. Functional (31)P-NMR spectroscopy was performed to quantify phosphocreatine (PCr) and inorganic phosphate (Pi) within the occipital cortex during (activation) and after (recovery) a visual stimulus.ResultsPatients with GLUT1-DS experienced a mean of 30.8 (± 27.7) paroxysmal manifestations (52% motor events) at baseline that dropped to 2.8 (± 2.9, 76% motor events) during the treatment phase (p = 0.028). After withdrawal, paroxysmal manifestations recurred with a mean of 24.2 (± 21.9, 52% motor events; p = 0.043). Furthermore, brain energy metabolism normalised with triheptanoin, that is, increased Pi/PCr ratio during brain activation compared to the recovery phase (p = 0.021), and deteriorated when triheptanoin was withdrawn.ConclusionsTreatment with triheptanoin resulted in a 90% clinical improvement in non-epileptic paroxysmal manifestations and a normalised brain bioenergetics profile in patients with GLUT1-DS.Trial registration numberNCT02014883.

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The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.

Project description:Historically, the syndrome of primary paroxysmal dyskinesias was considered a group of disorders as a result of ion channel dysfunction. This proposition was primarily based on the discovery of mutations in ion channels, which caused other episodic neurological disorders such as epilepsy and migraine and also supported by the frequent association between paroxysmal dyskinesias and epilepsy. However, the discovery of the genes responsible for the 3 classic forms of paroxysmal dyskinesias disproved this ion channel theory. On the other hand, novel gene mutations implicating ion channels have been recently reported to produce episodic movement disorders clinically similar to the classic paroxysmal dyskinesias. Here, we review the clinical and pathophysiological aspects of the paroxysmal dyskinesias, further proposing a pathophysiological framework according to which they can be classified as synaptopathies (proline-rich transmembrane protein 2 and myofibrillogenesis regulator gene), channelopathies (calcium-activated potassium channel subunit alpha-1 and voltage-gated sodium channel type 8), or transportopathies (solute carrier family 2 member 1). This proposal might serve to explain similarities and differences among the various paroxysmal dyskinesias in terms of clinical features, treatment response, and natural history. © 2017 International Parkinson and Movement Disorder Society.

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Hemiplegic Migraine in Glut1 Deficiency Syndrome and Paroxysmal Dyskinesia at Ketogenic Diet Induction: Case Report and Literature Review.

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Case report on psychogenic nonepileptic seizures: A series of unfortunate events.

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Glut1 deficiency and alternating hemiplegia of childhood.

Project description: Not available

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Differentiation of epilepsy and psychogenic nonepileptic events based on body fluid characteristics.

Project description:ObjectiveDifferential diagnosis between epileptic seizures and psychogenic nonepileptic events (PNEEs) is a worldwide problem for neurologists. The present study aims to identify important characteristics from body fluid tests and develop diagnostic models based on them.MethodsThis is a register-based observational study in patients with a diagnosis of epilepsy or PNEEs at West China Hospital of Sichuan University. Data from body fluid tests between 2009 and 2019 were used as a training set. We constructed models with a random forest approach in eight training subsets divided by sex and categories of tests, including electrolyte, blood cell, metabolism, and urine tests. Then, we collected data prospectively from patients between 2020 and 2022 to validate our models and calculated the relative importance of characteristics in robust models. Selected characteristics were finally analyzed with multiple logistic regression to establish nomograms.ResultsA total of 388 patients, including 218 with epilepsy and 170 with PNEEs, were studied. The AUROCs of random forest models of electrolyte and urine tests in the validation phase achieved 80.0% and 79.0%, respectively. Carbon dioxide combining power, anion gap, potassium, calcium, and chlorine in electrolyte tests and specific gravity, pH, and conductivity in urine tests were selected for the logistic regression analysis. C (ROC) of the electrolyte and urine diagnostic nomograms achieved 0.79 and 0.85, respectively.SignificanceThe application of routine indicators of serum and urine may help in the more accurate identification of epileptic and PNEEs.

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