Search

Your search keyword '"Heyman, Eli"' showing total 196 results
Start Over Author "Heyman, Eli"
196 results on '"Heyman, Eli"'

4. ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice

Author

Aoto, Kazushi, Kato, Mitsuhiro, Akita, Tenpei, Nakashima, Mitsuko, Mutoh, Hiroki, Akasaka, Noriyuki, Tohyama, Jun, Nomura, Yoshiko, Hoshino, Kyoko, Ago, Yasuhiko, Tanaka, Ryuta, Epstein, Orna, Ben-Haim, Revital, Heyman, Eli, Miyazaki, Takehiro, Belal, Hazrat, Takabayashi, Shuji, Ohba, Chihiro, Takata, Atsushi, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Fukuda, Atsuo, Matsumoto, Naomichi, and Saitsu, Hirotomo

Published
2021
Full Text
View/download PDF

14. Medical cannabis for the treatment of comorbid symptoms in children with autism spectrum disorder: An interim analysis of biochemical safety

Author

Stolar, Orit, primary, Hazan, Ariela, additional, Vissoker, Roni Enten, additional, Kishk, Ibrahim Abu, additional, Barchel, Dana, additional, Lezinger, Mirit, additional, Dagan, Adi, additional, Treves, Nir, additional, Meiri, David, additional, Berkovitch, Matitiahu, additional, Kohn, Elkana, additional, and Heyman, Eli, additional

Published
2022
Full Text
View/download PDF

21. Lacosamide for SCN2A-related intractable neonatal and infantile seizures

Author

Lerman Sagie Tally, Litmanovits Ita, Bassan Haim, Livneh Ayelet, Reish Orit, Ben Sason Lilli Anat, Heyman Eli, Flor-Hirsch Hadar, Lev Dorit, and Watemberg Nathan

Subjects
Male, 0301 basic medicine, Phenytoin, Drug Resistant Epilepsy, Lacosamide, Mutation, Missense, Lamotrigine, Gene mutation, Infant, Newborn, Diseases, 03 medical and health sciences, 0302 clinical medicine, Sodium channel blocker, medicine, Humans, Voltage-Gated Sodium Channel Blockers, Epilepsy, NAV1.2 Voltage-Gated Sodium Channel, business.industry, Sodium channel, Infant, Newborn, Electroencephalography, General Medicine, Carbamazepine, 030104 developmental biology, Neurology, Anesthesia, Epilepsy syndromes, Female, Neurology (clinical), business, Spasms, Infantile, 030217 neurology & neurosurgery, medicine.drug
Abstract

Voltage-gated sodium channel alpha subunit 2 (SCN2A) gene mutations are associated with neonatal seizures and a wide range of epilepsy syndromes. Previous reports suggest that traditional sodium channel blockers (SCBs) such as phenytoin, carbamazepine, and lamotrigine have a beneficial effect on SCN2A-related neonatal seizures, as they counteract the gain-of-function effect of mutated Nav1.2 channels. Additionally, SCBs are beneficial against other sodium and potassium channel-related neonatal seizures. There are, however, few reports describing the effect of the new SCB lacosamide against neonatal and infantile epileptic seizures. We report herein two neonates with intractable neonatal seizures with SCN2A pathogenic missense variants. Both infants showed temporary seizure relief following IV administrations of phenytoin, but were resistant to a combination of antiepileptic drugs, while complete seizure control was achieved following lacosamide administration. We suggest that SCBs, e.g. phenytoin, should be introduced early for refractory neonatal seizures of non-lesional and presumably genetic origin. If any beneficial response to a SCB is noted, this should prompt an initiation of additional SCBs. New clinical trials will provide data on the efficacy and safety of the new SCB lacosamide for genetic neonatal seizures and perhaps neonatal seizures in general.

Published
2018
Full Text
View/download PDF

31. CHAMP1 Mutations cause Refractory Infantile Myoclonic Epilepsy

Author

Ben-Haim, Revital, additional, Heyman, Eli, additional, Benyamini, Lilach, additional, Shapira, Daniel, additional, Lev, Dorit, additional, Tzadok, Michal, additional, Lerman-Sagie, Tally, additional, Saitsu, Hirotomo, additional, Matsumoto, Naomichi, additional, Iwama, Kazuhiro, additional, Lazinger, Mirit, additional, and Bassan, Haim, additional

Published
2019
Full Text
View/download PDF

32. The outcome of triplet, quadruplet, and quintuplet pregnancies managed in a perinatal unit: obstetric, neonatal, and follow-up data

Author

Gonen, Ron, Heyman, Eli, Asztalos, Elizabeth V., Ohlsson, Arne, Pitson, Lynn C., Shennan, Andrew T., and Milligan, John E.

Subjects
Multiple birth -- Care and treatment, Obstetrics -- Evaluation, Quadruplets -- Health aspects, Triplets -- Health aspects, Quintuplets -- Health aspects, Health
Abstract

The use of fertility drugs has increased the incidence of multiple pregnancies, those involving more than two fetuses. The outcome of a multiple pregnancy depends on the number of fetuses and the quality of medical care given to the mother and the fetuses. Improved diagnostic methods, improved neonatal care and the use of selective termination to reduce the number of fetuses carried to term, has influenced the outcome of multiple pregnancies. An evaluation of 24 triplet, five quadruplet and one quintuplet pregnancies from one hospital over a 10-year period was conducted. The rate of death occurring during the first seven days of life was 31.6 per 1000 live infants and the late mortality (the rate of death occurring between seven and 28 days after birth) was 21. The perinatal death rate (during pregnancy and one week after birth) was 51.5. The number of infants surviving and discharged from the hospital was 98 percent. Respiratory distress syndrome, a breathing disorder caused by immature lung tissue, affected 43 percent of the infants. Bronchopulmonary dysplasia, abnormal tissue in the breathing structures, was present in six percent. Other complications included disorders of the eye (retinopathy of immaturity) in three percent, bleeding in the brain (intraventricular hemorrhage) in four percent and cerebral palsy in two percent. Only one child had a moderate handicap (spastic diplegia) at follow-up 10 years later. The remaining 99 percent of the infants had no evidence of further medical problems. A favorable outcome of multiple pregnancies is improved by early diagnosis, meticulous care during pregnancy, continuous monitoring of fetal well-being, early hospitalization, cesarean delivery and the immediate availability of a neonatologist during delivery. Although selective termination of fetuses in multiple pregnancies may be an option in some obstetrical cases, the 90 percent survival rate of multiple pregnancies does not support this type of management. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1990

33. A novel PAK1variant causative of neurodevelopmental disorder with postnatal macrocephaly

Author

Ohori, Sachiko, Mitsuhashi, Satomi, Ben-Haim, Revital, Heyman, Eli, Sengoku, Toru, Ogata, Kazuhiro, and Matsumoto, Naomichi

Abstract

p21-activated kinases (PAKs) are protein serine/threonine kinases stimulated by Rho-family p21 GTPases such as CDC42 and RAC. PAKs have been implicated in several human disorders, with pathogenic variants in PAK3associated with intellectual disability and several PAK members, especially PAK1 and PAK4, overexpressed in human cancer. Recently, de novo PAK1variants were reported to be causative of neurodevelopmental disorder (ND) with secondary macrocephaly in three patients. We herein report a fourth patient with ND, epilepsy, and macrocephaly caused by a de novo PAK1missense variant. Two previously reported missense PAK1variants functioned as activating alleles by reducing PAK1 homodimerization. To examine the pathogenicity of the identified novel p.Ser110Thr variant, we carried out in silico structural analysis. Our findings suggest that this variant also prevents PAK1 homodimerization, leading to constitutive PAK1 activation.

Published
2020
Full Text
View/download PDF

34. Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum

Author

Basel-Vanagaite, Lina, Hershkovitz, Tova, Heyman, Eli, Raspall-Chaure, Miquel, Kakar, Naseebullah, Smirin-Yosef, Pola, Vila-Pueyo, Marta, Kornreich, Liora, Thiele, Holger, Bode, Harald, Lagovsky, Irina, Dahary, Dvir, Haviv, Ami, Hubshman, Monika Weisz, Pasmanik-Chor, Metsada, Nürnberg, Peter, Gothelf, Doron, Kubisch, Christian, Shohat, Mordechai, Macaya, Alfons, and Borck, Guntram

Published
2013
Full Text
View/download PDF

36. The molecular and phenotypic spectrum ofIQSEC2-related epilepsy

Author

Zerem, Ayelet, primary, Haginoya, Kazuhiro, additional, Lev, Dorit, additional, Blumkin, Lubov, additional, Kivity, Sara, additional, Linder, Ilan, additional, Shoubridge, Cheryl, additional, Palmer, Elizabeth Emma, additional, Field, Michael, additional, Boyle, Jackie, additional, Chitayat, David, additional, Gaillard, William D., additional, Kossoff, Eric H., additional, Willems, Marjolaine, additional, Geneviève, David, additional, Tran-Mau-Them, Frederic, additional, Epstein, Orna, additional, Heyman, Eli, additional, Dugan, Sarah, additional, Masurel-Paulet, Alice, additional, Piton, Ame'lie, additional, Kleefstra, Tjitske, additional, Pfundt, Rolph, additional, Sato, Ryo, additional, Tzschach, Andreas, additional, Matsumoto, Naomichi, additional, Saitsu, Hirotomo, additional, Leshinsky-Silver, Esther, additional, and Lerman-Sagie, Tally, additional

Published
2016
Full Text
View/download PDF

37. Statistics on the built infrastructure at the Vancouver EPiCC experimental sites

Author

Van Der Laan, Michael Tije, Tooke, Thoreau Rory, Christen, Andreas, Coops, Nicholas C., Heyman, Eli, and Olchovski, Inna

Abstract

This report documents statistics and descriptions of the built infrastructure and population in two study neighbourhoods that were part of the EPiCC network, namely the residential neighbourhoods of "Vancouver-Oakridge" and "Vancouver-Sunset". The report quantifies the built cover (plan area ratios) and 3D-structure (height, sky view factor) of the urban surface in the neighbourhoods as required for mesoscale urban parameterizations and ecosystem modeling. It also details a building typology approach and describes building characteristics (building and roof materials, heights, footprint, floor area, etc.) and the population density and distribution.

Published
2012
Full Text
View/download PDF

40. Tolerability and efficacy of perampanel in children with refractory epilepsy.

Author

Heyman, Eli, Lahat, Eli, Levin, Noa, Epstein, Orna, Lazinger, Mirit, Berkovitch, Matitiahu, and Gandelman‐Marton, Revital

Subjects
*EPILEPSY, *ANTICONVULSANTS, *STANDARD deviations, *LENNOX-Gastaut syndrome, *PHARMACOKINETICS
Abstract

Aim: There are few reports on the tolerability and efficacy of perampanel, a new antiepileptic drug with a novel mechanism of action, in children and adolescents. We aimed to describe our experience with perampanel add-on and mono-therapy in children with refractory epilepsy.Method: Computerized medical records of children treated with perampanel in the paediatric neurology clinic from December 2012 to October 2015 were reviewed.Results: Twenty-four children treated with perampanel (15 females, 9 males) aged 1 year 6 months to 17 years (mean 10y, standard deviation [SD] 4y 5mo) were identified. Adverse events were more common in children aged 12 years or older (89%) compared to younger children (53%), and were mainly behavioural. Ten (42%) children had 50 per cent or higher seizure reduction, two (8%) children had 33 per cent seizure reduction, and seizures were less severe in one (4%) child. Perampanel was discontinued in 13 (54%) children mostly due to adverse events. The mean duration of follow-up in the remaining 11 children was 8.1 months (SD 5.2) (range 1.3-17mo).Interpretation: Perampanel is associated with a relatively high rate of behavioural adverse events mostly in adolescents with refractory epilepsy. [ABSTRACT FROM AUTHOR]

Published
2017
Full Text
View/download PDF

41. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.

Author

Zerem, Ayelet, Haginoya, Kazuhiro, Lev, Dorit, Blumkin, Lubov, Kivity, Sara, Linder, Ilan, Shoubridge, Cheryl, Palmer, Elizabeth Emma, Field, Michael, Boyle, Jackie, Chitayat, David, Gaillard, William D., Kossoff, Eric H., Willems, Marjolaine, Geneviève, David, Tran-Mau-Them, Frederic, Epstein, Orna, Heyman, Eli, Dugan, Sarah, and Masurel-Paulet, Alice

Subjects
GENETICS of epilepsy, ELECTROPHYSIOLOGICAL aspects of epilepsy, MAGNETIC resonance imaging of the brain, LENNOX-Gastaut syndrome, SEIZURES (Medicine), INTELLECTUAL disabilities, DIAGNOSIS, GENETICS, THERAPEUTICS
Abstract

Objective IQSEC2 is an X-linked gene associated with intellectual disability ( ID) and epilepsy. Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants. Methods Forty-eight patients with IQSEC2 variants were identified worldwide through Medline search. Two patients were recruited from our early onset epileptic encephalopathy cohort and one patient from personal communication. The 18 patients who have epilepsy in addition to ID are the subject of this study. Information regarding the 18 patients was ascertained by questionnaire provided to the treating clinicians. Results Six affected individuals had an inherited IQSEC2 variant and 12 had a de novo one (male-to-female ratio, 12:6). The pathogenic variant types were as follows: missense (8), nonsense (5), frameshift (1), intragenic duplications (2), translocation (1), and insertion (1). An epileptic encephalopathy was diagnosed in 9 (50%) of 18 patients. Seizure onset ranged from 8 months to 4 years; seizure types included spasms, atonic, myoclonic, tonic, absence, focal seizures, and generalized tonic-clonic ( GTC) seizures. The electroclinical syndromes could be defined in five patients: late-onset epileptic spasms (three) and Lennox-Gastaut or Lennox-Gastaut-like syndrome (two). Seizures were pharmacoresistant in all affected individuals with epileptic encephalopathy. The epilepsy in the other nine patients had a variable age at onset from infancy to 18 years; seizure types included GTC and absence seizures in the hereditary cases and GTC and focal seizures in de novo cases. Seizures were responsive to medical treatment in most cases. All 18 patients had moderate to profound intellectual disability. Developmental regression, autistic features, hypotonia, strabismus, and white matter changes on brain magnetic resonance imaging ( MRI) were prominent features. Significance The phenotypic spectrum of IQSEC2 disorders includes epilepsy and epileptic encephalopathy. Epileptic encephalopathy is a main clinical feature in sporadic cases. IQSEC2 should be evaluated in both male and female patients with an epileptic encephalopathy. [ABSTRACT FROM AUTHOR]

Published
2016
Full Text
View/download PDF

42. The Role of Prematurity in Patients With Hemiplegic Cerebral Palsy.

Author

Zelnik, Nathanel, Lahat, Eli, Heyman, Eli, Livne, Amir, Schertz, Mitchell, Sagie, Liora, and Fattal-Valevski, Aviva

Subjects
PEOPLE with cerebral palsy, PATIENT management, CHILDREN'S health, CHILD health services, HEMIPLEGIA, DIAGNOSIS
Abstract

A multicenter retrospective study was conducted to investigate the perinatal factors, imaging findings and clinical characteristics of hemiplegic cerebral palsy with a particular focus on children born prematurely. Our cohort included 135 patients of whom 42% were born prematurely; 16% were extreme premature infants who were born at 30 weeks or earlier. Nineteen (14%) were twins. Right hemiplegia was slightly more common and accounted for 59% of the patients. Imaging findings of intraventricular hemorrhage and periventricular leukomalacia were more prevalent in premature children whereas stroke, porencephaly, cerebral hemorrhage and cerebral atrophy were more evenly distributed in both term-born and prematurely-born children (p < 0.01). The overall prevalence of epilepsy in the cohort was 26% with no differences in full-term compared to prematurely-born children. Regardless of the gestational birth age, intellectual deficits were more common in the presence of comorbidity of both hemiplegia and epilepsy (p < 0.05). [ABSTRACT FROM AUTHOR]

Published
2016
Full Text
View/download PDF

45. Reply

Author

Katz, Yitzhak, primary, Rajuan, Nelly, additional, Goldberg, Michael R., additional, Eisenberg, Eli, additional, Heyman, Eli, additional, Cohen, Adi, additional, and Leshno, Moshe, additional

Published
2011
Full Text
View/download PDF

50. Left Ventricular Thrombus

Author

Youngster, Ilan, primary, Eshel, Gideon, additional, Abu-kishak, Ibrahim, additional, Heyman, Eli, additional, and Baram, Shaul, additional

Published
2007
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results