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https://www.readbyqxmd.com/read/27905566/early-onset-epileptic-encephalopathy-caused-by-a-reduced-sensitivity-of-kv7-2-potassium-channels-to-phosphatidylinositol-4-5-bisphosphate
#1
Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michela De Maria, Edoardo Moretto, Francesco Miceli, Alessandro Alaimo, Nunzio Iraci, Laura Manocchio, Alessandro Medoro, Maria Passafaro, Maurizio Taglialatela
Kv7.2 and Kv7.3 subunits underlie the M-current, a neuronal K(+) current characterized by an absolute functional requirement for phosphatidylinositol 4,5-bisphosphate (PIP2). Kv7.2 gene mutations cause early-onset neonatal seizures with heterogeneous clinical outcomes, ranging from self-limiting benign familial neonatal seizures to severe early-onset epileptic encephalopathy (Kv7.2-EE). In this study, the biochemical and functional consequences prompted by a recurrent variant (R325G) found independently in four individuals with severe forms of neonatal-onset EE have been investigated...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27889242/benign-mesial-temporal-lobe-epilepsy-a-clinical-cohort-and-literature-review
#2
REVIEW
Amal AlQassmi, Jorge G Burneo, Richard S McLachlan, Seyed M Mirsattari
OBJECTIVE: We present a single-center retrospective study of benign mesial temporal lobe epilepsy (bMTLE) between 1995 and 2014. METHODS: Hospital records and clinic charts were reviewed. The clinical, Eelectroencephalographic (EEG), imaging features, and response to treatment with antiepileptic drugs (AEDs) were documented. Patients were included in this study if they were seizure-free for a minimum of 24months with or without an AED. RESULTS: Twenty-seven patients were identified...
November 23, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27888506/rapid-and-safe-response-to-low-dose-carbamazepine-in-neonatal-epilepsy
#3
Tristan T Sands, Martina Balestri, Giulia Bellini, Sarah B Mulkey, Olivier Danhaive, Eliza Hayes Bakken, Maurizio Taglialatela, Michael S Oldham, Federico Vigevano, Gregory L Holmes, Maria Roberta Cilio
OBJECTIVE: To evaluate treatment responses in benign familial neonatal epilepsy (BFNE). METHODS: We recruited patients with BFNE through a multicenter international collaboration and reviewed electroclinical and genetic details, and treatment response. All patients were tested at minimum for mutations/deletions in the KCNQ2, KCNQ3, and SCN2A genes. RESULTS: Nineteen patients were included in this study. A family history of neonatal seizures was positive in 16 patients, and one additional patient had a family history of infantile seizures...
November 26, 2016: Epilepsia
https://www.readbyqxmd.com/read/27886629/transient-epileptic-amnesia-over-twenty-years-long-term-follow-up-of-a-case-series-with-three-detailed-reports
#4
Sharon A Savage, Christopher R Butler, John R Hodges, Adam Z Zeman
PURPOSE: Transient Epileptic Amnesia (TEA) is a form of adult onset temporal lobe epilepsy characterised by ictal amnesia. The amnesic seizures are often accompanied by interical memory disturbance, involving autobiographical amnesia and accelerated long-term forgetting. Short-term follow-up studies suggest a relatively stable cognitive profile once treated, but recent case reports raise concerns regarding the risk of developing Alzheimer's disease (AD). The current study reports clinical and cognitive outcome in TEA patients over a 20-year period...
November 14, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27867041/infantile-epileptic-encephalopathy-associated-with-scn2a-mutation-responsive-to-oral-mexiletine
#5
Laura A Foster, Maria R Johnson, John T MacDonald, Peter I Karachunski, Thomas R Henry, David R Nascene, Brian P Moran, Gerald V Raymond
BACKGROUND: Genetic alterations are significant causes of epilepsy syndromes; especially early-onset epileptic encephalopathies and voltage-gated sodium channelopathies are among the best described. Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, generalized epilepsy febrile seizures plus, and an early-onset infantile epileptic encephalopathy. METHOD: We describe two infants with medically refractory seizures due to a de novo SCN2A mutation...
October 18, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27861722/epilepsy-and-adverse-quality-of-life-in-surgically-resected-meningioma
#6
M J Tanti, A G Marson, M D Jenkinson
OBJECTIVES: Meningiomas are common intracranial tumors, and despite surgery or therapy with anti-epileptic drugs (AEDs), many patients suffer from seizures. Epilepsy has a significant impact on quality of life (QoL) in non-tumor populations, but the impact of epilepsy on QoL in patients with meningioma is unknown. Our aim was to evaluate the impact of epilepsy on QoL in patients that have undergone resection of a benign meningioma. MATERIALS AND METHODS: We recruited meningioma patients without epilepsy (n=109), meningioma patients with epilepsy (n=56), and epilepsy patients without meningioma (n=64)...
November 14, 2016: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/27857615/it-goes-downhill-from-here-but-do-not-despair-mesial-temporal-lobe-epilepsy-is-a-progressive-disease-but-it-can-be-benign
#7
Barbara C Jobst
No abstract text is available yet for this article.
November 2016: Epilepsy Currents
https://www.readbyqxmd.com/read/27855768/-cognitive-deficits-are-underestimated-in-children-with-benign-epilepsy-with-centro-temporal-spikes
#8
Mary Doreen Atkins, Kirsten Juul
Benign epilepsy with centro-temporal spikes (BECTS) is, as the name suggests, usually considered benign. However, there is a growing awareness that this is not the case in all instances. Many of the children with BECTS have neuropsychological and linguistic dysfunctions, even after remission of the disease. In patients with classic BECTS, an association with GRIN2A-mutations is reported by several groups, suggesting a possible placement of BECTS at the mild end of an epileptic-aphasia spectrum. Awareness of the possible neuropsychological consequences of BECTS should be considered when treating these children...
November 7, 2016: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/27823947/coexisting-neuronal-autoantibodies-among-children-with-demyelinating-syndromes
#9
Hikmet Kıztanır, Gonca Bektaş, Edibe Pembegül Yıldız, Tuğçe Aksu Uzunhan, Burak Tatlı, Nur Aydınlı, Mine Çalışkan, Meral Özmen
OBJECTIVES: To determine the incidence and clinical relevance of neuronal autoantibodies in children with demyelinating syndromes. METHODS: We conducted a prospective study including 31 consecutive children with demyelinating syndromes. Four patients with N-Methyl-D-aspartate receptor (NMDAR) encephalitis, 32 patients with Guillain-Barre syndrome, 13 children with benign childhood epilepsy, and 28 healthy children were used as controls. Prior to initiating immunomodulatory therapy, serum samples were tested for antibodies against NMDAR, α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) 1, AMPAR2, leucine-rich glioma-activated protein 1, contactin-associated protein 2, gamma-aminobutyric acid B receptors, paraneoplastic ma antigen 2 (PNMA2/Ta), Yo, Ri, Hu, CV2, amphiphysin, and aquaporin-4 by indirect immunofluorescence assays...
November 4, 2016: Brain & Development
https://www.readbyqxmd.com/read/27819402/-a-descriptive-study-of-non-symptomatic-epilepsy-according-to-age-at-onset-at-a-neuropediatric-section-of-regional-reference
#10
L Ochoa-Gomez, J Lopez-Pison, R Fernando-Martinez, C Fuertes-Rodrigo, P Samper-Villagrasa, L Monge-Galindo, J L Pena-Segura
AIM: A descriptive study of non-symptomatic epilepsy (idiopathic and cryptogenic), according to age at onset, monitored at a Neuropediatric Section of regional reference over a period of three years. PATIENTS AND METHODS: A review of neuropediatric database medical records of children with non-symptomatic epilepsy supervised from Jan 1, 2008 till December 31, 2010. RESULTS: Of the 4595 children attended during the period, 605 were diagnosed with epilepsy (13...
November 16, 2016: Revista de Neurologia
https://www.readbyqxmd.com/read/27818795/juvenile-myoclonic-epilepsy-in-rural-western-india-not-yet-a-benign-syndrome
#11
Devangi Desai, Soaham Desai, Trilok Jani
Purpose. To study prevalence of uncontrolled seizures in patients with juvenile myoclonic epilepsy [JME] and assess factors responsible for it. Methods. An ambispective study of all patients with JME attending our epilepsy clinic was done. We recruited all patients with JME evaluated between 1 January 2009 and 31 December 2013 and followed them up to 31 December 2015. Results. Amongst 876 patients with epilepsy, JME was present in 73 patients. Amongst them, 53 [72.6%] had uncontrolled seizures prior to neurology consultation...
2016: Epilepsy Research and Treatment
https://www.readbyqxmd.com/read/27810518/social-cognition-in-juvenile-myoclonic-epilepsy
#12
Filippo S Giorgi, Melania Guida, Lorenzo Caciagli, Cristina Pagni, Chiara Pizzanelli, Enrica Bonanni, Gloria Tognoni, Ubaldo Bonuccelli
OBJECTIVE: Juvenile Myoclonic Epilepsy (JME) is a common genetic generalized epilepsy syndrome. Several studies have detailed cognitive and imaging abnormalities pointing to frontal lobe dysfunction, as well as disadvantageous behavioral traits and poor social outcome, challenging the commonly held view of JME being a benign disorder. Social cognition is the ability to elaborate mental representations of social interactions and to use them correctly in social contexts, and includes Theory of Mind (ToM), which pertains to the attribution of cognitive and affective mental states to self and others and seems to rely on complex fronto-temporal interactions...
October 26, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27797139/tuberous-sclerosis-complex-from-molecular-biology-to-novel-therapeutic-approaches
#13
REVIEW
Katarzyna Switon, Katarzyna Kotulska, Aleksandra Janusz-Kaminska, Justyna Zmorzynska, Jacek Jaworski
Tuberous sclerosis complex (TSC) is a rare multi-system disorder, primary manifestations of which are benign tumors and lesions in various organs of the body, including the brain. TSC patients often suffer from epilepsy, mental retardation, and autism spectrum disorder (ASD). Therefore, TSC serves as a model of epilepsy, ASD, and tumorigenesis. TSC is caused by the lack of functional Tsc1-Tsc2 complex, which serves as a major cellular inhibitor of mammalian Target of Rapamycin Complex 1 (mTORC1). mTORC1 is a kinase controlling most of anabolic processes in eukaryotic cells...
October 31, 2016: IUBMB Life
https://www.readbyqxmd.com/read/27788553/-cognitive-development-in-children-with-benign-rolandic-epilepsy-of-childhood-with-centrotemporal-spikes-results-of-a-current-systematic-database-search
#14
H Neumann, F Helmke, C Thiels, T Polster, L M Selzer, M Daseking, F Petermann, T Lücke
Benign Rolandic Epilepsy (BRE) is one of the most common epilepsy syndromes in childhood. Although global intellectual performance is typically normal in BRE-patients, problems were found in specific cognitive domains. To summarize recent empirical findings concerning cognitive development in children with BRE a systematic literature search of clinical studies published between 2009 and 2015 was performed. 19 studies of relevance were found.In most recent studies children with BRE consistently showed general intellectual performance within the normal range...
October 2016: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/27781031/gene-panel-testing-in-epileptic-encephalopathies-and-familial-epilepsies
#15
Rikke S Møller, Line H G Larsen, Katrine M Johannesen, Inga Talvik, Tiina Talvik, Ulvi Vaher, Maria J Miranda, Muhammad Farooq, Jens E K Nielsen, Lene Lavard Svendsen, Ditte B Kjelgaard, Karen M Linnet, Qin Hao, Peter Uldall, Mimoza Frangu, Niels Tommerup, Shahid M Baig, Uzma Abdullah, Alfred P Born, Pia Gellert, Marina Nikanorova, Kern Olofsson, Birgit Jepsen, Dragan Marjanovic, Lana I K Al-Zehhawi, Sofia J Peñalva, Bente Krag-Olsen, Klaus Brusgaard, Helle Hjalgrim, Guido Rubboli, Deb K Pal, Hans A Dahl
In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic epilepsies. This study aimed to analyze the genetic basis of a wide spectrum of epilepsies with age of onset spanning from the neonatal period to adulthood. A gene panel targeting 46 epilepsy genes was used on a cohort of 216 patients consecutively referred for panel testing...
September 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27781029/novel-kcnq3-mutation-in-a-large-family-with-benign-familial-neonatal-epilepsy-a-rare-cause-of-neonatal-seizures
#16
Snezana Maljevic, Sabina Vejzovic, Matthias K Bernhard, Astrid Bertsche, Sebastian Weise, Miriam Döcker, Holger Lerche, Johannes R Lemke, Andreas Merkenschlager, Steffen Syrbe
Benign familial neonatal seizures (BFNS) present a rare familial epilepsy syndrome caused by genetic alterations in the voltage-gated potassium channels Kv7.2 and Kv7.3, encoded by KCNQ2 and KCNQ3. While most BFNS families carry alterations in KCNQ2, mutations in KCNQ3 appear to be less common. Here, we describe a family with 6 individuals presenting with neonatal focal and generalized seizures. Genetic testing revealed a novel KCNQ3 variant, c.835G>T, cosegregating with seizures in 4 tested individuals...
September 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27781028/phenotypic-variability-from-benign-infantile-epilepsy-to-ohtahara-syndrome-associated-with-a-novel-mutation-in-scn2a
#17
Steffen Syrbe, Boris S Zhorov, Astrid Bertsche, Matthias K Bernhard, Frauke Hornemann, Ulrike Mütze, Jessica Hoffmann, Konstanze Hörtnagel, Wieland Kiess, Franz W Hirsch, Johannes R Lemke, Andreas Merkenschlager
Mutations in SCN2A have been associated with benign familial neonatal-infantile seizures (BFNIS) as well as infantile-onset epileptic encephalopathy, such as Ohtahara syndrome (OS). We describe a family with 3 affected individuals carrying the novel SCN2A missense variant c.1147C>G, p.Q383E affecting a residue proximal to the highly conserved selectivity filter in the P-loop of the voltage-gated sodium channel (Nav1.2). All 3 individuals presented with seizures in early infancy. However, there were striking differences in the spectrum of clinical presentations, ranging from BFNIS to OS...
September 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27781027/understanding-genotypes-and-phenotypes-in-epileptic-encephalopathies
#18
REVIEW
Ingo Helbig, Abou Ahmad N Tayoun
Epileptic encephalopathies are severe often intractable seizure disorders where epileptiform abnormalities contribute to a progressive disturbance in brain function. Often, epileptic encephalopathies start in childhood and are accompanied by developmental delay and various neurological and non-neurological comorbidities. In recent years, this concept has become virtually synonymous with a group of severe childhood epilepsies including West syndrome, Lennox-Gastaut syndrome, Dravet syndrome, and several other severe childhood epilepsies for which genetic factors are increasingly recognized...
September 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27764735/diagnosing-infantile-spasms-accuracy-of-the-internet
#19
Amara Krag, Gregory L Holmes
Infantile spasms, one of the catastrophic epilepsies, can be a diagnostic challenge since the clinical manifestations may be subtle and may mimic benign conditions. Because of the rarity of the condition, primary care physicians and pediatricians may never see a case of infantile spasms during their career and may be unfamiliar with the seizure semiology. This is a serious issue since there is evidence that early diagnosis and treatment may improve outcome. Patients and families are increasingly using the internet more than their physician as a source of medical information about epilepsy...
October 17, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27763963/brief-potentially-ictal-rhythmic-discharges-b-i-rds-in-non-critically-ill-adults
#20
Ji Yeoun Yoo, Lara V Marcuse, Madeline C Fields, Jillian Rosengard, Maria Vittoria Traversa, Nicolas Gaspard, Lawrence J Hirsch
INTRODUCTION: Brief potentially ictal rhythmic discharges (B(I)RDs) have been described in neonates and critically ill adults, and their association with seizures has been demonstrated. Their significance in non-critically ill adults remains unclear. We aimed to investigate their prevalence, electrographic characteristics and clinical significance. METHODS: We identified adult patients with B(I)RDs who received long term EEG recordings either in the epilepsy monitoring unit or in the ambulatory setting...
October 19, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
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