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Infantile spasm

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https://www.readbyqxmd.com/read/28515470/a-novel-missense-mutation-in-the-hect-domain-of-nedd4l-identified-in-a-girl-with-periventricular-nodular-heterotopia-polymicrogyria-and-cleft-palate
#1
Koji Kato, Fuyuki Miya, Ikumi Hori, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh
We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HECT domain of NEDD4L have been reported in patients with a neurodevelopmental disorder along with similar brain malformations. All patients reported with NEDD4L HECT domain mutations showed periventricular nodular heterotopia, and most had seizures, cortex anomalies, cleft palate and syndactyly...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28513609/application-of-rare-variant-transmission-disequilibrium-tests-to-epileptic-encephalopathy-trio-sequence-data
#2
(no author information available yet)
The classic epileptic encephalopathies, including infantile spasms (IS) and Lennox-Gastaut syndrome (LGS), are severe seizure disorders that usually arise sporadically. De novo variants in genes mainly encoding ion channel and synaptic proteins have been found to account for over 15% of patients with IS or LGS. The contribution of autosomal recessive genetic variation, however, is less well understood. We implemented a rare variant transmission disequilibrium test (TDT) to search for autosomal recessive epileptic encephalopathy genes in a cohort of 320 outbred patient-parent trios that were generally prescreened for rare metabolic disorders...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28506505/the-utility-of-surveillance-electroencephalography-to-guide-early-antiepileptic-drug-therapy-in-infants-with-tuberous-sclerosis-complex
#3
Robyn Whitney, Saber Jan, Maria Zak, Bláthnaid McCoy
BACKGROUND: Seizures are a common early presentation in infants with tuberous sclerosis complex (TSC) and can be preceded by electrographic changes on electroencephalography (EEG) before clinical seizure onset. A limited number of studies have addressed the initial EEG findings in TSC and the outcome of early treatment with antiepileptic medication prior to clinical seizure onset. METHODS: We describe two infants with tuberous sclerosis complex whose surveillance EEG showed focal seizures that were not previously recognized by caregivers...
April 18, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28483397/short-term-outcome-of-intravenous-methylprednisolone-pulse-therapy-in-patients-with-infantile-spasms
#4
Hye-Ryun Yeh, Min-Jee Kim, Tae-Sung Ko, Mi-Sun Yum, Su-Jeong You
BACKGROUND: Many studies advocate hormonal treatments including high-dose oral prednisolone as an effective treatment for epileptic spasms. However, little is known about the effects of intravenous methylprednisolone pulse therapy on infantile spasms. We investigated the short-term response to intravenous methylprednisolone pulse therapy for the treatment of infantile spasms. METHODS: Patients with newly diagnosed infantile spasms and hypsarrhythmia on electroencephalography (EEG) at two tertiary centers in Korea were included...
March 31, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28462453/preclinical-screening-for-treatments-for-infantile-spasms-in-the-multiple-hit-rat-model-of-infantile-spasms-an-update
#5
Aristea S Galanopoulou, Wenzhu B Mowrey, Wei Liu, Qianyun Li, Oleksii Shandra, Solomon L Moshé
Infantile spasms are the typical seizures of West syndrome, an infantile epileptic encephalopathy with poor outcomes. There is an increasing need to identify more effective and better tolerated treatments for infantile spasms. We have optimized the rat model of infantile spasms due to structural etiology, the multiple-hit rat model, for therapy discovery. Here, we test three compounds administered after spasms induction in the multiple hit model for efficacy and tolerability. Specifically, postnatal day 3 (PN3) male Sprague-Dawley rats were induced by right intracerebral injections of doxorubicin and lipopolysaccharide...
May 2, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28457992/influence-of-seizures-on-early-development-in-tuberous-sclerosis-complex
#6
Jamie K Capal, Beatriz Bernardino-Cuesta, Paul S Horn, Donna Murray, Anna Weber Byars, Nicole M Bing, Bridget Kent, Deborah A Pearson, Mustafa Sahin, Darcy A Krueger
OBJECTIVE: Epilepsy is commonly seen in Tuberous Sclerosis Complex (TSC). The relationship between seizures and developmental outcomes has been reported, but few studies have examined this relationship in a prospective, longitudinal manner. The objective of the study was to evaluate the relationship between seizures and early development in TSC. METHODS: Analysis of 130 patients ages 0-36months with TSC participating in the TSC Autism Center of Excellence Network, a large multicenter, prospective observational study evaluating biomarkers predictive of autism spectrum disorder (ASD), was performed...
April 27, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28434569/hormonal-therapy-with-vigabatrin-is-superior-to-hormonal-therapy-alone-in-infantile-spasms
#7
Kelly G Knupp
No abstract text is available yet for this article.
May 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28427564/inflammation-in-epileptic-encephalopathies
#8
Oleksii Shandra, Solomon L Moshé, Aristea S Galanopoulou
West syndrome (WS) is an infantile epileptic encephalopathy that manifests with infantile spasms (IS), hypsarrhythmia (in ~60% of infants), and poor neurodevelopmental outcomes. The etiologies of WS can be structural-metabolic pathologies (~60%), genetic (12%-15%), or of unknown origin. The current treatment options include hormonal treatment (adrenocorticotropic hormone and high-dose steroids) and the GABA aminotransferase inhibitor vigabatrin, while ketogenic diet can be given as add-on treatment in refractory IS...
2017: Advances in Protein Chemistry and Structural Biology
https://www.readbyqxmd.com/read/28421469/effectiveness-and-safety-of-different-once-daily-doses-of-adrenocorticotropic-hormone-for-infantile-spasms
#9
Jinghua Yin, Qianjin Lu, Fei Yin, Ying Wang, Fang He, Liwen Wu, Lifen Yang, Xiaolu Deng, Chen Chen, Jing Peng
INTRODUCTION: Adrenocorticotropic hormone (ACTH) has been commonly used as a first-line treatment for infantile spasms (IS), but its optimal dose and duration are still unclear. This study is the largest retrospective cohort to document the therapeutic efficacy and tolerability for three gradient doses of ACTH in IU/kg/day units in Chinese patients. OBJECTIVE: The aim of our study was to elucidate the effectiveness and safety of three different low doses and duration of ACTH treatment for IS in China...
April 18, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28401986/auditory-processing-following-infantile-spasms-an-event-related-potential-study
#10
Tangunu Fosi, Klaus Werner, Stewart G Boyd, Michelle De Haan, Rod C Scott, Brian G Neville
OBJECTIVES: To investigate acoustic auditory processing in patients with recent infantile spasms (IS). METHODS: Patients (n = 22; 12 female; median age 8 months; range 5-11 months) had normal preceding development, brain magnetic resonance imaging (MRI), and neurometabolic testing (West syndrome of unknown cause, uWS). Controls were healthy babies (n = 22; 11 female; median age 6 months; range 3-12 months). Event-related potentials (ERPs) and psychometry (Bayley Scales of Infant Development, Second Edition, BSID-II) took place at a month following IS remission...
April 12, 2017: Epilepsia
https://www.readbyqxmd.com/read/28397999/scalp-eeg-ictal-gamma-and-beta-activity-during-infantile-spasms-evidence-of-focality
#11
Hiroki Nariai, Jules Beal, Aristea S Galanopoulou, Wenzhu B Mowrey, Stephan Bickel, Yoshimi Sogawa, Rana Jehle, Shlomo Shinnar, Solomon L Moshé
OBJECTIVE: We investigated temporal and spatial characteristics of ictal gamma and beta activity on scalp EEG during spasms in patients with West syndrome (WS) to evaluate potential focal cortical onset. METHODS: A total of 1,033 spasms from 34 patients with WS of various etiologies were analyzed on video-electroencephalography (EEG) using time-frequency analysis. Ictal gamma (35-90 Hz) and beta (15-30 Hz) activities were correlated with visual symmetry of spasms, objective EMG (electromyography) analysis, and etiology of WS...
May 2017: Epilepsia
https://www.readbyqxmd.com/read/28361097/independent-variant-analysis-of-tead1-and-ocel1-in-38-aicardi-syndrome-patients
#12
Bibiana K Y Wong, Vernon R Sutton, Richard A Lewis, Ignatia B Van den Veyver
BACKGROUND: Aicardi syndrome is a severe neurodevelopmental disorder characterized by infantile spasms, typical chorioretinal lacunae, agenesis of the corpus callosum, and other neuronal migration defects. It has been reported recently that de novo variants in TEAD1 and OCEL1 each may cause Aicardi syndrome in a single individual of a small cohort of females with this clinical diagnosis. These data were interpreted to suggest that the clinical diagnosis of Aicardi syndrome may be genetically heterogeneous...
March 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28343008/electroclinical-features-of-epilepsy-in-patients-with-invdup-15
#13
REVIEW
Alberto Verrotti, Fiammetta Sertorio, Sara Matricardi, Pietro Ferrara, Pasquale Striano
PURPOSE: InvDup(15) syndrome is one of the most common chromosomal abnormalities associated with epilepsy. Here we review the seizure types described in InvDup(15) patients and the main electroclinical, therapeutic, and prognostic aspects of the syndrome. METHODS: A literature search of PubMed, MEDLINE, and EMBASE was performed to identify papers examining InvDup(15) syndrome and epilepsy. RESULTS: About 65% of the InvDup(15) patients described in the literature had multiple seizure types with a predominance (40...
April 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28336145/legionella-pneumophila-pneumonia-in-two-infants-treated-with-adrenocorticotropic-hormone
#14
Yael Shachor-Meyouhas, Sarit Ravid, Suheir Hanna, Karin Yaacoby-Bianu, Imad Kassis
Patients with infantile spasms, an intractable epileptic disorder, often are treated with adrenocorticotropic hormone. Legionella pneumophila is a rare cause of pneumonia in children. We describe 2 infants with Legionella pneumonia whose infection occurred within 1 month after starting adrenocorticotropic hormone.
March 20, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28328131/recessive-mutations-in-slc35a3-cause-early-onset-epileptic-encephalopathy-with-skeletal-defects
#15
Carla Marini, Katia Hardies, Tiziana Pisano, Patrick May, Sarah Weckhuysen, Elena Cellini, Arvid Suls, Davide Mei, Rudi Balling, Peter D Jonghe, Ingo Helbig, Domenico Garozzo, Renzo Guerrini
We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozygous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28315806/paroxysmal-nonepileptic-events-in-children-with-epilepsy
#16
Yuji Ito, Hiroyuki Kidokoro, Tamiko Negoro, Masaharu Tanaka, Yu Okai, Yoko Sakaguchi, Chikako Ogawa, Tomoya Takeuchi, Atsuko Ohno, Hiroyuki Yamamoto, Tomohiko Nakata, Satoshi Maesawa, Kazuyoshi Watanabe, Yoshiyuki Takahashi, Jun Natsume
OBJECTIVE: The aim of this study was to clarify the characteristics of paroxysmal nonepileptic events (PNEs) suspected as being epileptic seizures by families of children with epilepsy. METHODS: The video-EEG (vEEG) recordings of habitual paroxysmal events in children with epilepsy at Nagoya University Hospital between October 2006 and January 2016 were reviewed. Based on the doctor's suspicion before the vEEG, the PNEs were divided into two groups that included PNEs suspected as epileptic seizures and PNEs suspected as PNEs...
February 27, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28288483/efficacy-of-treatments-for-infantile-spasms-a-systematic-review
#17
REVIEW
Ji Min Song, Jongsung Hahn, Se Hee Kim, Min Jung Chang
OBJECTIVES: West syndrome (also known as infantile spasm because of its main seizure type) is a rare form of epilepsy that begins during early infancy. Recent guidelines and reviews on West syndrome recommend the use of adrenocorticotropic hormone steroids, or vigabatrin, as the first-line treatment. However, West syndrome remains to be one of the most challenging epilepsies to treat. Here, we systematically reviewed the current literature obtained during the previous decade. This article provides an overview of the current treatment of infantile spasms...
March 2017: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/28284046/breaking-the-cycle-a-comparison-between-intravenous-immunoglobulins-and-high-dosage-prednisone-in-the-treatment-of-medically-intractable-epilepsy-in-children
#18
COMPARATIVE STUDY
Richard Tang-Wai, Janette Mailo, Bernard Rosenblatt
PURPOSE: Because immune mediated mechanisms are suspected in epileptogenesis, IVIg and corticosteroids have been used as alternatives to treat refractory seizures. We present our experience treating intractable epileptic children with IVIg and prednisone. METHODS: Children with intractable epilepsy treated with prednisone or IVIg between 2005-2016 were reviewed retrospectively. Children with infantile spasms and autoimmune epilepsy were excluded. Data analyzed include epilepsy type and etiology, duration of epilepsy prior to treatment, seizure outcome, time to best seizure outcome, and adverse effects...
April 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28250421/ankrd11-variants-cause-variable-clinical-features-associated-with-kbg-syndrome-and-coffin-siris-like-syndrome
#19
Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto
KBG syndrome (KBGS) is an autosomal dominant multiple congenital anomaly-intellectual disability syndrome, characterized by developmental delay with neurological involvements, macrodontia of the upper central incisors, characteristic facial dysmorphism and skeletal anomalies. Variants in ANKRD11 cause KBGS. We present five individuals from four families with ANKRD11 variants identified by whole-exome sequencing. Four of the five were clinically affected, and their diagnoses were varied. One was typical KBGS, two were Coffin-Siris syndrome-like (CSS), and one was intellectual disability with infantile spasms...
March 2, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28230253/risk-of-vigabatrin-associated-brain-abnormalities-on-mri-in-the-treatment-of-infantile-spasms-is-dose-dependent
#20
Shaun A Hussain, Jackie Tsao, Menglu Li, Madeline D Schwarz, Raymond Zhou, Joyce Y Wu, Noriko Salamon, Raman Sankar
OBJECTIVE: Although the link between vigabatrin (VGB) and retinotoxicity is well known, little attention has been focused on the risk of VGB-associated brain abnormalities on magnetic resonance imaging (MRI) (VABAM), namely reversible-and largely asymptomatic-signal changes in the thalami, basal ganglia, brainstem tegmentum, and cerebellar nuclei. Using a large infantile spasms cohort, we set out to identify predictors of these phenomena. METHODS: Children with infantile spasms were retrospectively identified...
April 2017: Epilepsia
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