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epileptic encephalopathy

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https://www.readbyqxmd.com/read/28229464/modified-atkins-diet-is-an-effective-treatment-for-children-with-doose-syndrome
#1
Adelheid Wiemer-Kruel, Edda Haberlandt, Hans Hartmann, Gabriele Wohlrab, Thomas Bast
OBJECTIVE: Children with myoclonic astatic epilepsy (MAE; Doose syndrome) whose seizures do not respond immediately to standard antiepileptic drugs (AEDs) are at high risk of developing an epileptic encephalopathy with cognitive decline. A classic ketogenic diet (KD) is a highly effective alternative to AEDs. To date, there are only limited data on the effectiveness of the modified Atkins diet (MAD), which is less restrictive and more compatible with daily life. We report findings from a retrospective study on 30 MAE patients treated with MAD...
February 23, 2017: Epilepsia
https://www.readbyqxmd.com/read/28229394/epileptic-encephalopathies-clinical-syndromes-and-pathophysiological-concepts
#2
REVIEW
Markus von Deimling, Ingo Helbig, Eric D Marsh
Epileptic encephalopathies account for a large proportion of the intractable early-onset epilepsies and are characterized by frequent seizures and poor developmental outcome. The epileptic encephalopathies can be loosely divided into two related groups of named syndromes. The first comprises epilepsies where continuous EEG changes directly result in cognitive and developmental dysfunction. The second includes patients where cognitive impairment is present at seizure onset and is due to the underlying etiology but the epileptic activity may then worsen the cognitive abilities over time...
February 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28218389/confirming-the-recessive-inheritance-of-scn1b-mutations-in-developmental-epileptic-encephalopathy
#3
Wafaa Ramadan, Nisha Patel, Shamsa Anazi, Amal Y Kentab, Fahad A Bashiri, Muddathir H Hamad, Lamya Jad, Mustafa A Salih, Hessa Alsaif, Mais Hashem, Eissa Faqeih, Hanan E Shamseddin, Fowzan S Alkuraya
Dominant SCN1B mutations are known to cause several epilepsy syndromes in humans. Only two epilepsy patients to date have been reported to have recessive mutations in SCN1B as the likely cause of their phenotype. Here, we confirm the recessive inheritance of two novel SCN1B mutations in five children from three families with developmental epileptic encephalopathy. The recessive inheritance and early death in these patients is consistent with the Dravet-like phenotype observed in Scn1b(-/-) mice. The "negative" clinical exome in one of these families highlight the need to consider recessive mutations in the interpretation of variants in typically dominant genes...
February 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28202706/clinical-and-genetic-factors-predicting-dravet-syndrome-in-infants-with-scn1a-mutations
#4
Valentina Cetica, Sara Chiari, Davide Mei, Elena Parrini, Laura Grisotto, Carla Marini, Daniela Pucatti, Annarita Ferrari, Federico Sicca, Nicola Specchio, Marina Trivisano, Domenica Battaglia, Ilaria Contaldo, Nelia Zamponi, Cristina Petrelli, Tiziana Granata, Francesca Ragona, Giuliano Avanzini, Renzo Guerrini
OBJECTIVE: To explore the prognostic value of initial clinical and mutational findings in infants with SCN1A mutations. METHODS: Combining sex, age/fever at first seizure, family history of epilepsy, EEG, and mutation type, we analyzed the accuracy of significant associations in predicting Dravet syndrome vs milder outcomes in 182 mutation carriers ascertained after seizure onset. To assess the diagnostic accuracy of all parameters, we calculated sensitivity, specificity, receiver operating characteristic (ROC) curves, diagnostic odds ratios, and positive and negative predictive values and the accuracy of combined information...
February 15, 2017: Neurology
https://www.readbyqxmd.com/read/28202424/gnao1-associated-epileptic-encephalopathy-and-movement-disorders-c-607g-a-variant-represents-a-probable-mutation-hotspot-with-a-distinct-phenotype
#5
Ravindra Arya, Christine Spaeth, Donald L Gilbert, James L Leach, Katherine D Holland
We describe a case of GNAO1-associated epilepsy and chorea in a patient with a de novo pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation hotspot that characterizes a unique phenotype. This 5.2-years-old boy presented with seizures, chorea, and severe global developmental delay. Brain imaging showed progressive diffuse cerebral atrophy. EEG monitoring revealed multifocal and diffuse discharges, along with generalized-onset seizures...
February 15, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28197949/the-impact-of-next-generation-sequencing-on-the-diagnosis-and-treatment-of-epilepsy-in-paediatric-patients
#6
REVIEW
Davide Mei, Elena Parrini, Carla Marini, Renzo Guerrini
Next-generation sequencing (NGS) has contributed to the identification of many monogenic epilepsy syndromes and is favouring earlier and more accurate diagnosis in a subset of paediatric patients with epilepsy. The cumulative information emerging from NGS studies is rapidly changing our comprehension of the relations between early-onset severe epilepsy and the associated neurological impairment, progressively delineating specific entities previously gathered under the umbrella definition of epileptic encephalopathies, thereby influencing treatment choices and limiting the most aggressive drug regimens only to those conditions that are likely to actually benefit from them...
February 14, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28193882/neuronal-hyperexcitability-in-a-mouse-model-of-scn8a-epileptic-encephalopathy
#7
Luis F Lopez-Santiago, Yukun Yuan, Jacy L Wagnon, Jacob M Hull, Chad R Frasier, Heather A O'Malley, Miriam H Meisler, Lori L Isom
Patients with early infantile epileptic encephalopathy (EIEE) experience severe seizures and cognitive impairment and are at increased risk for sudden unexpected death in epilepsy (SUDEP). EIEE13 [Online Mendelian Inheritance in Man (OMIM) # 614558] is caused by de novo missense mutations in the voltage-gated sodium channel gene SCN8A Here, we investigated the neuronal phenotype of a mouse model expressing the gain-of-function SCN8A patient mutation, p.Asn1768Asp (Nav1.6-N1768D). Our results revealed regional and neuronal subtype specificity in the effects of the N1768D mutation...
February 13, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28173825/myoclonic-seizure-prior-to-diagnosis-of-chronic-toxic-encephalopathy-a-case-report
#8
Wim L C Van Hooste
BACKGROUND: "Thinner" is a widely used industrial mixture of organic solvents. Exposure to organic solvents is usually not considered to be a possible cause of epilepsy, despite descriptions of toxic effects on the central nervous system. There are only a few reports about a possible epileptogenic effect of organic solvents exposure. We report a case of myoclonic seizure at the workplace that shows a remarkable coincidence between exposure to a thinner mixture and the occurrence of an epileptic seizure...
February 7, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28173649/-a-novel-mutation-in-kcnb1-gene-in-a-child-with-neuropsychiatric-comorbidities-with-both-intellectual-disability-and-epilepsy-and-review-of-literature
#9
P Miao, J Peng, C Chen, N Gai, F Yin
Objective: To explore the association between the phenotype and KCNB1 gene mutation. Method: Clinical information including physical features, laboratory and genetic data of one patient of mental retardation with refractory epilepsy from Department of Pediatrics, Xiangya Hospital in January 2016 was analyzed. This patient was discovered to have KCNB1 gene mutations through whole exome sequencing. Relevant information about KCNB1 gene mutation was searched and collected from Pubmed, CNKI, Human Gene Mutation Database(HGMD) and Online Mendelian Inheritance in Man(OMIM)...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28169412/-reversible-alterations-in-the-neuroimages-associated-with-vigabatrine-treatment-in-infants-with-epileptic-spasms
#10
M A Fernandez-Garcia, J J Garcia-Penas, H Gomez-Martin, I Perez-Sebastian, E Garcia-Esparza, S Sirvent-Cerda
INTRODUCTION: Vigabatrin (VGB) is a first-line drug for the treatment of infantile spasms. Recently, several reports claim the existence of abnormalities in magnetic resonance imaging (MRI) (particularly affecting basal ganglia, and visible in T2 and diffusion sequences) in infants with spasms that were receiving high doses of VGB (> 100 mg/kg/day), which appear to be reversible after withdrawal of treatment. CASE REPORTS: We present two cases with an epileptic encephalopathy in the first year of life and seizures consisting of infantile spasms...
February 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28168619/pure-endoscopic-management-of-epileptogenic-hypothalamic-hamartomas
#11
S Chibbaro, H Cebula, J Scholly, J Todeschi, I Ollivier, A Timofeev, M Ganau, P Di Emidio, M P Valenti, A M Staack, T Bast, B J Steinhoff, E Hirsch, P Kehrli, F Proust
Hypothalamic hamartomas (HH) are rare congenital malformations located in the region of the tuber cinereum and third ventricle. Their usual clinical presentation is characterized by gelastic/dacrystic seizures which often become pharmaco-resistant and progress to secondary focal/generalized intractable epilepsy causing mostly in children cognitive and behavioral problems (particularly in cases of progressive epileptic encephalopathy) and precocious puberty. Whereas gelastic seizures can be surgically controlled either by resection of the lesion or disconnection (tissue-destructive) procedures, aimed at functionally prevent the spreading of the epileptic burst; generalized seizures tend to respond better to HH excision rather than isolated neocortical resections, which generally fail to control them...
February 7, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28144796/clinical-predictors-and-differential-diagnosis-of-posterior-reversible-encephalopathy-syndrome
#12
Laetitia Della Faille, S Fieuws, W Van Paesschen
The aim of our study is to determine the clinical predictors and the differential diagnosis of posterior reversible encephalopathy syndrome (PRES) in patients presenting with acute neurological symptoms and risk factors for PRES. Using the diagnostic algorithm for PRES from Fugate and Rabinstein (Lancet Neurol 14(9):914-925, 1), we carried out a retrospective study on 220 patients, presenting with acute neurological symptoms such as seizures, encephalopathy, headache, visual disturbances or other focal neurological signs that appear in the clinical setting of risk factors such as hypertension/blood pressure fluctuations, chemotherapy, renal failure, autoimmune disorders, or eclampsia, in whom imaging of the brain was performed to exclude PRES...
January 31, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28144627/phenytoin-responsive-epileptic-encephalopathy-with-a-tandem-duplication-involving-fgf12
#13
Rui-Ming Shi, Tomoko Kobayashi, Atsuo Kikuchi, Ryo Sato, Mitsugu Uematsu, Kumiko An, Shigeo Kure
No abstract text is available yet for this article.
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28141740/preventing-cognitive-impairment-in-children-with-epilepsy
#14
Kees P J Braun
PURPOSE OF REVIEW: Cognitive impairments are common in children with epilepsy. They may already be present before the onset of epilepsy or occur - and even progress - during its course. Many variables contribute to cognitive dysfunction. Those that can be targeted to prevent (further) cognitive impairment will be highlighted in this review. RECENT FINDINGS: Ideally, but not yet realistically, epileptogenesis is prevented to avert seizures and cognitive impairments in high-risk patients...
January 30, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28140735/risk-factors-affecting-prognosis-in-infantile-spasm
#15
Gulen Gul Mert, Ozlem Herguner, Faruk Incecik, Sakir Altunbasak, Duygu Sahan, Ilker Unal
AIM: To assess risk factors that affect epilepsy prognosis and neurodevelopmental outcome and response to treatment in patients diagnosed with infantile spasm. METHODS: In this study, demographics, treatment modalities, etiologies, risk factors affecting neurodevelopmental outcome and epilepsy prognosis were assessed retrospectively at the end of a minimum 24-months follow-up of 104 patients diagnosed with infantile spasm from May 2012 to October 2015. RESULTS: Neonatal seizure during neonatal period, abnormal head circumference, young age at the time of presentation and early gestational age, symptomatic etiology, abnormal initial examination and abnormal development test at the time of diagnosis, consanguinity, the medical center where treatment was started in the second center or beyond and magnetic resonance imaging finding were found to be statistically significant for poor prognosis in terms of neurodevelopment (p <0...
January 31, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28139826/neonatal-nonepileptic-myoclonus-is-a-prominent-clinical-feature-of-kcnq2-gain-of-function-variants-r201c-and-r201h
#16
Sarah B Mulkey, Bruria Ben-Zeev, Joost Nicolai, John L Carroll, Sabine Grønborg, Yong-Hui Jiang, Nishtha Joshi, Megan Kelly, David A Koolen, Mohamad A Mikati, Kristen Park, Phillip L Pearl, Ingrid E Scheffer, Rebecca C Spillmann, Maurizio Taglialatela, Silvia Vieker, Sarah Weckhuysen, Edward C Cooper, Maria Roberta Cilio
OBJECTIVE: To analyze whether KCNQ2 R201C and R201H variants, which show atypical gain-of-function electrophysiologic properties in vitro, have a distinct clinical presentation and outcome. METHODS: Ten children with heterozygous, de novo KCNQ2 R201C or R201H variants were identified worldwide, using an institutional review board (IRB)-approved KCNQ2 patient registry and database. We reviewed medical records and, where possible, interviewed parents and treating physicians using a structured, detailed phenotype inventory focusing on the neonatal presentation and subsequent course...
January 31, 2017: Epilepsia
https://www.readbyqxmd.com/read/28134012/treatment-of-epileptic-encephalopathies
#17
Hiroki Nariai, Susan Duberstein, Shlomo Shinnar
Childhood epileptic encephalopathies are age-dependent disorders of the brain whose hallmarks include loss of neurologic function over time, abnormal electroencephalographic findings, and seizures. Ictal and interictal electrographic activity are conjointly thought to be at the root of the often devastating neuropsychological deterioration, which is specific to the maturing brain. The goals of treatment are not only to control seizures, but also to prevent or reverse neurologic loss of function. In general, time is of the essence in diagnosis, and experienced specialists should promptly design a treatment plan...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28133863/genetics-and-genotype-phenotype-correlations-in-early-onset-epileptic-encephalopathy-with-burst-suppression
#18
Heather E Olson, McKenna Kelly, Christopher M LaCoursiere, Rebecca Pinsky, Dimira Tambunan, Catherine Shain, Sriram Ramgopal, Masanori Takeoka, Mark H Libenson, Kristina Julich, Tobias Loddenkemper, Eric D Marsh, Devorah Segal, Susan Koh, Michael S Salman, Alex R Paciorkowski, Edward Yang, Ann M Bergin, Beth Rosen Sheidley, Annapurna Poduri
OBJECTIVE: We sought to identify genetic causes of early onset epileptic encephalopathies with burst suppression (Ohtahara syndrome and early myoclonic encephalopathy) and evaluate genotype-phenotype correlations. METHODS: We enrolled 33 patients with a referral diagnosis of Ohtahara syndrome or early myoclonic encephalopathy without malformations of cortical development. We performed detailed phenotypic assessment including seizure presentation, EEG, and MRI. We confirmed burst suppression in 28 out of 33 patients...
January 30, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28100740/epilepsy-associated-kcnq2-channels-regulate-multiple-intrinsic-properties-of-layer-2-3-pyramidal-neurons
#19
Zachary Niday, Virginia E Hawkins, Heun Soh, Daniel K Mulkey, Anastasios V Tzingounis
: KCNQ2 potassium channels are critical for normal brain function, as both loss-of-function and gain-of-function KCNQ2 variants can lead to various forms of neonatal epilepsy. Despite recent progress, the full spectrum of consequences as a result of KCNQ2 dysfunction in neocortical pyramidal neurons is still unknown. Here, we report that conditional ablation of Kcnq2 from mouse neocortex leads to hyperexcitability of layer 2/3 (L2/3) pyramidal neurons, exhibiting an increased input resistance and action potential frequency, as well as a reduced medium afterhyperpolarization (mAHP), a conductance partly mediated by KCNQ2 channels...
January 18, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28098945/frequency-of-cnksr2-mutation-in-the-x-linked-epilepsy-aphasia-spectrum
#20
John A Damiano, Rosemary Burgess, Sara Kivity, Tally Lerman-Sagie, Zaid Afawi, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand
Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. In this study, we sequenced 112 patients with phenotypes within the epilepsy-aphasia spectrum (EAS) to determine the frequency of CNKSR2 mutation within this complex set of disorders...
January 18, 2017: Epilepsia
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