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https://www.readbyqxmd.com/read/27843043/hyperekplexia-report-on-phenotype-and-genotype-of-16-jordanian-patients
#1
Amira Masri, Seo-Kyung Chung, Mark I Rees
BACKGROUND: Hyperekplexia, is a rare disorder characterized by excessive startle response to acoustic, visual, or other stimuli. It is inherited in autosomal recessive and dominant pattern. OBJECTIVE: To describe the clinical and genetic features of hyperekplexia in Jordanian patients. METHODS: This retrospective study includes all patients with proved genetic diagnosis of hyperekplexia who presented to our clinic at the Jordan University Hospital from January 2001 through July 2015...
November 11, 2016: Brain & Development
https://www.readbyqxmd.com/read/27816769/in-vivocharacterization-of-the-aspartyl-trna-synthetase-dars-homing-in-on-the-leukodystrophy-hbsl
#2
Dominik Fröhlich, Alexandra K Suchowerska, Ziggy H T Spencer, Georg von Jonquieres, Claudia B Klugmann, Andre Bongers, Fabien Delerue, Holly Stefen, Lars M Ittner, Thomas Fath, Gary D Housley, Matthias Klugmann
BACKGROUND: The recently diagnosed leukodystrophy Hypomyelination with Brain stem and Spinal cord involvement and Leg spasticity (HBSL) is caused by mutations of the cytoplasmic aspartyl-tRNA synthetase geneDARS. The physiological role of DARS in translation is to accurately pair aspartate with its cognate tRNA. Clinically, HBSL subjects show a distinct pattern of hypomyelination and develop progressive leg spasticity, variable cognitive impairment and epilepsy. To elucidate the underlying pathomechanism, we comprehensively assessed endogenous DARS expression in mice...
November 2, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27770045/de-novo-tubb2a-variant-presenting-with-anterior-temporal-pachygyria
#3
Lance H Rodan, Christelle Moufawad El Achkar, Gerard T Berry, Annapurna Poduri, Sanjay P Prabhu, Edward Yang, Irina Anselm
TUBB2A is a gene that has recently been reported in association with structural brain abnormalities. Only 3 cases have been reported to date with disparate brain morphologic abnormalities, although all patients have presented with developmental delay and infantile-onset epilepsy. We report a fourth patient with a de novo variant in TUBB2A that is predicted to be pathogenic, presenting with developmental delay, spastic diplegia, exaggerated startle, and anterior temporal pachygyria in the absence of epilepsy...
October 21, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27535030/clinical-and-genetic-features-of-13-spanish-patients-with-kcnq2-mutations
#4
Montesclaros Hortigüela, Ana Fernández-Marmiesse, Verónica Cantarín, Sofía Gouveia, Juan J García-Peñas, Carmen Fons, Judith Armstrong, Desirée Barrios, Felícitas Díaz-Flores, Pilar Tirado, María L Couce, Luis G Gutiérrez-Solana
The KCNQ2 gene codifies a subunit of the voltage-gated potassium M channel underlying the neuronal M-current. Classically, mutations in this gene have been associated with benign familial neonatal seizures, however, in recent years KCNQ2 mutations have been reported associated to early-onset epileptic encephalopathy. In this work, detailed familiar, clinical and genetic data were collected for 13 KCNQ2-positive patients revealed among a cohort of 80 epileptic pediatric probands from Spain who were analyzed through a targeted next-generation sequencing assay for 155 epilepsy-associated genes...
August 18, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27522229/epileptic-phenotype-of-two-siblings-with-asparagine-synthesis-deficiency-mimics-neonatal-pyridoxine-dependent-epilepsy
#5
Svetlana Gataullina, Julia Lauer-Zillhardt, Anna Kaminska, Louise Galmiche-Rolland, Nadia Bahi-Buisson, Clément Pontoizeau, Chris Ottolenghi, Olivier Dulac, Catherine Fallet-Bianco
We report the cases of a brother and a sister of nonconsanguineous parents who developed progressive microcephaly and had tremor, irritability, spasticity, startle reflexes, and permanent erratic myoclonus since birth. Focal clonic seizures, status epilepticus, and infantile spasms appeared later, during the first months of life, while erratic myoclonic jerks persisted. Electroencephalogram initially showed multifocal spikes that evolved into modified hypsarrhythmia and then discontinuous activity, evoking the progressive nature of the condition...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27365170/the-t-type-calcium-channel-antagonist-z944-disrupts-prepulse-inhibition-in-both-epileptic-and-non-epileptic-rats
#6
Wendie N Marks, Quentin Greba, Stuart M Cain, Terrance P Snutch, John G Howland
The role of T-type calcium channels in brain diseases such as absence epilepsy and neuropathic pain has been studied extensively. However, less is known regarding the involvement of T-type channels in cognition and behavior. Prepulse inhibition (PPI) is a measure of sensorimotor gating which is a basic process whereby the brain filters incoming stimuli to enable appropriate responding in sensory rich environments. The regulation of PPI involves a network of limbic, cortical, striatal, pallidal and pontine brain areas, many of which show high levels of T-type calcium channel expression...
September 22, 2016: Neuroscience
https://www.readbyqxmd.com/read/27333343/synaptopathies-synaptic-dysfunction-in-neurological-disorders-a-review-from-students-to-students
#7
REVIEW
Katarzyna Lepeta, Mychael V Lourenco, Barbara C Schweitzer, Pamela V Martino Adami, Priyanjalee Banerjee, Silvina Catuara-Solarz, Mario de La Fuente Revenga, Alain Marc Guillem, Mouna Haidar, Omamuyovwi M Ijomone, Bettina Nadorp, Lin Qi, Nirma D Perera, Louise K Refsgaard, Kimberley M Reid, Mariam Sabbar, Arghyadip Sahoo, Natascha Schaefer, Rebecca K Sheean, Anna Suska, Rajkumar Verma, Cinzia Vicidomini, Dean Wright, Xing-Ding Zhang, Constanze Seidenbecher
Synapses are essential components of neurons and allow information to travel coordinately throughout the nervous system to adjust behavior to environmental stimuli and to control body functions, memories, and emotions. Thus, optimal synaptic communication is required for proper brain physiology, and slight perturbations of synapse function can lead to brain disorders. In fact, increasing evidence has demonstrated the relevance of synapse dysfunction as a major determinant of many neurological diseases. This notion has led to the concept of synaptopathies as brain diseases with synapse defects as shared pathogenic features...
September 2016: Journal of Neurochemistry
https://www.readbyqxmd.com/read/27314670/pharmacological-investigations-of-the-dissociative-legal-highs-diphenidine-methoxphenidine-and-analogues
#8
Jason Wallach, Heather Kang, Tristan Colestock, Hamilton Morris, Zuner A Bortolotto, Graham L Collingridge, David Lodge, Adam L Halberstadt, Simon D Brandt, Adeboye Adejare
1,2-Diarylethylamines including lanicemine, lefetamine, and remacemide have clinical relevance in a range of therapeutic areas including pain management, epilepsy, neurodegenerative disease and depression. More recently 1,2-diarylethylamines have been sold as 'legal highs' in a number of different forms including powders and tablets. These compounds are sold to circumvent governmental legislation regulating psychoactive drugs. Examples include the opioid MT-45 and the dissociative agents diphenidine (DPH) and 2-methoxy-diphenidine (2-MXP)...
2016: PloS One
https://www.readbyqxmd.com/read/27289259/molybdenum-cofactor-and-isolated-sulphite-oxidase-deficiencies-clinical-and-molecular-spectrum-among-egyptian-patients
#9
Maha S Zaki, Laila Selim, Hala T El-Bassyouni, Mahmoud Y Issa, Iman Mahmoud, Samira Ismail, Mariane Girgis, Abdelrahim A Sadek, Joseph G Gleeson, Mohamed S Abdel Hamid
AIM: Molybdenum cofactor deficiency (MoCD) and Sulfite oxidase deficiency (SOD) are rare autosomal recessive conditions of sulfur-containing amino acid metabolism with overlapping clinical features and emerging therapies. The clinical phenotype is indistinguishable and they can only be differentiated biochemically. MOCS1, MOCS2, MOCS3, and GPRN genes contribute to the synthesis of molybdenum cofactor, and SUOX gene encodes sulfite oxidase. The aim of this study was to elucidate the clinical, radiological, biochemical and molecular findings in patients with SOD and MoCD...
December 0: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27267861/dual-effects-of-limbic-seizures-on-psychosis-relevant-behaviors-shown-by-nucleus-accumbens-kindling-in-rats
#10
Jingyi Ma, L Stan Leung
BACKGROUND: A paradox in epilepsy and psychiatry is that temporal lobe epilepsy is often predisposed to schizophrenic-like psychosis, whereas convulsive therapy can relieve schizophrenic symptoms. We have previously demonstrated that the nucleus accumbens is a key structure in mediating postictal psychosis induced by a hippocampal electrographic seizure. OBJECTIVE/HYPOTHESIS: The purpose of this study is to test a hypothesis that accumbens kindling cumulating in a single (1-time) or repeated (5-times) convulsive seizures have different effects on animal models of psychosis...
September 2016: Brain Stimulation
https://www.readbyqxmd.com/read/27170668/startle-response-in-progressive-myoclonic-epilepsy
#11
Meral E Kızıltan, Ayşegül Gündüz, Tülin Coşkun, Şakir Delil, Nevin Pazarcı, Çiğdem Özkara, Naz Yeni
Cortical reflex myoclonus is a typical feature of progressive myoclonic epilepsy (PME) in which it is accompanied by other types of mostly drug-resistant seizures and progressive neurological signs. Although PME is characterized by cortical hyperexcitability, studies have demonstrated atrophy and degenerative changes in the brainstem in various types of PME. Thus, we have questioned whether any stimuli may trigger a hyperactive response of brainstem reticular formation in PME and investigated the startle reflex in individuals with PME...
May 11, 2016: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://www.readbyqxmd.com/read/27070861/effects-of-hippocampal-partial-kindling-on-sensory-and-sensorimotor-gating-and-methamphetamine-induced-locomotion-in-kindling-prone-and-kindling-resistant-rats
#12
Jingyi Ma, L Stan Leung
The effects of hippocampal partial kindling on gating of hippocampal auditory-evoked potentials (AEPs), prepulse inhibition (PPI) to an acoustic startle response, and methamphetamine-induced locomotion were examined in selectively bred kindling-prone (Fast) and kindling-resistant (Slow) rats. Ten electrographic seizures (afterdischarges, ADs) induced by high-frequency stimulation of the hippocampal CA1 region resulted in deficits in gating of hippocampal AEP and PPI in Fast, but not Slow, rats. The increase in AD duration with kindling was similar in Fast and Slow rats...
May 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/26898795/characteristic-phasic-evolution-of-convulsive-seizure-in-pcdh19-related-epilepsy
#13
Hiroko Ikeda, Katsumi Imai, Hitoshi Ikeda, Hideo Shigematsu, Yukitoshi Takahashi, Yushi Inoue, Norimichi Higurashi, Shinichi Hirose
PCDH19-related epilepsy is a genetic disorder that was first described in 1971, then referred to as "epilepsy and mental retardation limited to females". PCDH19 has recently been identified as the responsible gene, but a detailed characterization of the seizure manifestation based on video-EEG recording is still limited. The purpose of this study was to elucidate features of the seizure semiology in children with PCDH19-related epilepsy. To do this, ictal video-EEG recordings of 26 convulsive seizures in three girls with PCDH19-related epilepsy were analysed...
March 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/26643599/successful-epilepsy-surgery-in-frontal-lobe-epilepsy-with-startle-seizures-a-seeg-study
#14
Ana Ciurea, Irina Popa, Mihai Dragos Maliia, Nagy Csilla-Johanna, Andrei Barborica, Cristian Donos, Jean Ciurea, Ioan Opris, Ioana Mindruta
Pre-surgical assessment and surgical management of frontal epilepsy with normal MRI is often challenging. We present a case of a 33-year-old, right-handed, educated male. During childhood, his seizures presented with mandibular myoclonus and no particular trigger. As a young adult, he developed seizures with a startle component, triggered by unexpected noises. During his ictal episodes, he felt fear and grimaced with sudden head flexion and tonic axial posturing. Similar seizures also occurred without startle...
December 2015: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/26582750/the-frequency-of-spontaneous-seizures-in-rats-correlates-with-alterations-in-sensorimotor-gating-spatial-working-memory-and-parvalbumin-expression-throughout-limbic-regions
#15
D C Wolf, L S Bueno-Júnior, C Lopes-Aguiar, R A Do Val Da Silva, L Kandratavicius, J P Leite
Cognitive deficits and psychotic symptoms are highly prevalent in patients with temporal lobe epilepsy (TLE). Imaging studies in humans have suggested that these comorbidities are associated with atrophy in temporal lobe structures and other limbic regions. It remains to be clarified whether TLE comorbidities are due to the frequency of spontaneous seizures or to limbic structural damage per se. Here, we used the pilocarpine model of chronic spontaneous seizures to evaluate the possible association of seizure frequency with sensorimotor gating, spatial working memory, and neuropathology throughout limbic regions...
January 15, 2016: Neuroscience
https://www.readbyqxmd.com/read/26576006/electroclinical-and-cytogenetic-features-of-epilepsy-in-cri-du-chat-syndrome
#16
Yukako Nakagami, Kiyohito Terada, Hitoshi Ikeda, Toshio Hiyoshi, Yushi Inoue
Cri-du-chat syndrome (CdCs) is caused by deletion in the short arm of chromosome 5, occurring in 1:15,000 to 1:50,000 live births. Recent genotype-phenotype correlation studies show the importance of 5p15.2 for facial dysmorphism and intellectual disability, and 5p15.3 for cat-like cry. Numerous reports have shown the relative rarity of epilepsy in this syndrome. We identified two cases with epilepsy in CdCs, and described their electroclinical and cytogenetic features. The first case was a 25-year-old female who had axial tonic seizures with flexion of the neck and shoulders...
December 2015: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/26490879/the-genetic-absence-epilepsy-rats-from-strasbourg-model-of-absence-epilepsy-exhibits-alterations-in-fear-conditioning-and-latent-inhibition-consistent-with-psychiatric-comorbidities-in-humans
#17
Wendie N Marks, Mary E Cavanagh, Quentin Greba, Stuart M Cain, Terrance P Snutch, John G Howland
Behavioural, neurological, and genetic similarities exist in epilepsies, their psychiatric comorbidities, and various psychiatric illnesses, suggesting common aetiological factors. Rodent models of epilepsy are used to characterize the comorbid symptoms apparent in epilepsy and their neurobiological mechanisms. The present study was designed to assess Pavlovian fear conditioning and latent inhibition in a polygenetic rat model of absence epilepsy, i.e. Genetic Absence Epilepsy Rats from Strasbourg (GAERS) and the non-epileptic control (NEC) strain...
January 2016: European Journal of Neuroscience
https://www.readbyqxmd.com/read/26347608/new-insights-into-the-pathogenesis-and-therapeutics-of-episodic-ataxia-type-1
#18
REVIEW
Maria Cristina D'Adamo, Sonia Hasan, Luca Guglielmi, Ilenio Servettini, Marta Cenciarini, Luigi Catacuzzeno, Fabio Franciolini
Episodic ataxia type 1 (EA1) is a K(+) channelopathy characterized by a broad spectrum of symptoms. Generally, patients may experience constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance. During attacks additional symptoms may be reported such as vertigo, blurred vision, diplopia, nausea, headache, diaphoresis, clumsiness, stiffening of the body, dysarthric speech, and difficulty in breathing. These episodes may be precipitated by anxiety, emotional stress, fatigue, startle response or sudden postural changes...
2015: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/26118313/seizure-characteristics-of-epilepsy-in-childhood-after-acute-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion
#19
Yuji Ito, Jun Natsume, Hiroyuki Kidokoro, Naoko Ishihara, Yoshiteru Azuma, Takeshi Tsuji, Akihisa Okumura, Tetsuo Kubota, Naoki Ando, Shinji Saitoh, Kiyokuni Miura, Tamiko Negoro, Kazuyoshi Watanabe, Seiji Kojima
OBJECTIVE: The aim of this study was to clarify characteristics of post-encephalopathic epilepsy (PEE) in children after acute encephalopathy with biphasic seizures and late reduced diffusion (AESD), paying particular attention to precise diagnosis of seizure types. METHODS: Among 262 children with acute encephalopathy/encephalitis registered in a database of the Tokai Pediatric Neurology Society between 2005 and 2012, 44 were diagnosed with AESD according to the clinical course and magnetic resonance imaging (MRI) findings and were included in this study...
August 2015: Epilepsia
https://www.readbyqxmd.com/read/25805707/auditory-startle-response-is-normal-in-juvenile-myoclonic-epilepsy
#20
Melek Kandemir, Ayşegül Gündüz, Nurten Uzun, Naz Yeni, Meral Kızıltan
Juvenile myoclonic epilepsy (JME) is hypothesized to originate from the dysfunction of thalamo-cortical circuit. We aimed to analyze any changes in auditory startle response in JME patients to determine the role of brainstem in JME. The responses of 18 JME patients to auditory simulation were recorded over the unilateral orbicularis oculi, masseter, sternocleidomastoid, and extremity muscles. Results were compared with those of 18 age and gender matched healthy volunteers. Total auditory startle response frequencies were similar between the two groups (31...
July 2015: Neurological Sciences
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