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23 results on '"Haas, K"'

1. Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

Author

Koko, M, Motelow, JE, Stanley, KE, Bobbili, DR, Dhindsa, RS, May, P, Alldredge, BK, Allen, AS, Altmüller, J, Amrom, D, Andermann, E, Auce, P, Avbersek, A, Baulac, S, Bautista, JF, Becker, F, Bellows, Susannah, Berghuis, B, Berkovic, SF, Bluvstein, J, Boro, A, Bridgers, J, Burgess, R, Caglayan, H, Cascino, GD, Cavalleri, GL, Chung, SK, Cieuta-Walti, C, Cloutier, V, Consalvo, D, Cossette, P, Crumrine, P, Delanty, N, Depondt, C, Desbiens, R, Devinsky, O, Dlugos, D, Epstein, MP, Everett, K, Fiol, M, Fountain, NB, Francis, B, French, J, Freyer, C, Friedman, D, Gambardella, A, Geller, EB, Girard, S, Glauser, T, Glynn, S, Goldstein, DB, Gravel, M, Haas, K, Haut, SR, Heinzen, EL, Helbig, I, Hildebrand, MS, Johnson, MR, Jorgensen, A, Joshi, S, Kanner, A, Kirsch, HE, Klein, KM, Knowlton, RC, Koeleman, BPC, Kossoff, EH, Krause, R, Krenn, M, Kunz, WS, Kuzniecky, R, Langley, SR, LeGuern, E, Lehesjoki, AE, Lerche, H, Leu, C, Lortie, A, Lowenstein, DH, Marson, AG, Mebane, C, Mefford, HC, Meloche, C, Moreau, C, Motika, PV, Muhle, H, Møller, RS, Nabbout, R, Nguyen, DK, Nikanorova, M, Novotny, EJ, Nürnberg, P, Ottman, R, O’Brien, TJ, Paolicchi, JM, Parent, JM, Park, K, Peter, S, Petrou, S, Petrovski, S, Pickrell, WO, Poduri, A, Koko, M, Motelow, JE, Stanley, KE, Bobbili, DR, Dhindsa, RS, May, P, Alldredge, BK, Allen, AS, Altmüller, J, Amrom, D, Andermann, E, Auce, P, Avbersek, A, Baulac, S, Bautista, JF, Becker, F, Bellows, Susannah, Berghuis, B, Berkovic, SF, Bluvstein, J, Boro, A, Bridgers, J, Burgess, R, Caglayan, H, Cascino, GD, Cavalleri, GL, Chung, SK, Cieuta-Walti, C, Cloutier, V, Consalvo, D, Cossette, P, Crumrine, P, Delanty, N, Depondt, C, Desbiens, R, Devinsky, O, Dlugos, D, Epstein, MP, Everett, K, Fiol, M, Fountain, NB, Francis, B, French, J, Freyer, C, Friedman, D, Gambardella, A, Geller, EB, Girard, S, Glauser, T, Glynn, S, Goldstein, DB, Gravel, M, Haas, K, Haut, SR, Heinzen, EL, Helbig, I, Hildebrand, MS, Johnson, MR, Jorgensen, A, Joshi, S, Kanner, A, Kirsch, HE, Klein, KM, Knowlton, RC, Koeleman, BPC, Kossoff, EH, Krause, R, Krenn, M, Kunz, WS, Kuzniecky, R, Langley, SR, LeGuern, E, Lehesjoki, AE, Lerche, H, Leu, C, Lortie, A, Lowenstein, DH, Marson, AG, Mebane, C, Mefford, HC, Meloche, C, Moreau, C, Motika, PV, Muhle, H, Møller, RS, Nabbout, R, Nguyen, DK, Nikanorova, M, Novotny, EJ, Nürnberg, P, Ottman, R, O’Brien, TJ, Paolicchi, JM, Parent, JM, Park, K, Peter, S, Petrou, S, Petrovski, S, Pickrell, WO, and Poduri, A

Published
2022

2. Diverse genetic causes of polymicrogyria with epilepsy

Author

Allen, AS, Aggarwal, V, Berkovic, SF, Cossette, P, Delanty, N, Dlugos, D, Eichler, EE, Epstein, MP, Freyer, C, Goldstein, DB, Guerrini, R, Glauser, T, Heinzen, EL, Johnson, MR, Kuzniecky, R, Lowenstein, DH, Marson, AG, Mefford, HC, O'Brien, TJ, Ottman, R, Poduri, A, Petrou, S, Petrovski, S, Ruzzo, EK, Scheffer, IE, Sherr, EH, Abou-Khalil, B, Amrom, D, Andermann, E, Andermann, F, Bluvstein, J, Boro, A, Cascino, G, Consalvo, D, Crumrine, P, Devinsky, O, Fountain, N, Friedman, D, Geller, E, Glynn, S, Haas, K, Haut, S, Joshi, S, Kirsch, H, Knowlton, R, Kossoff, E, Motika, PV, Paolicchi, JM, Parent, JM, Shellhaas, RA, Shih, JJ, Shinnar, S, Singh, RK, Sperling, M, Smith, MC, Sullivan, J, Vining, EPG, Von Allmen, GK, Widdess-Walsh, P, Winawer, MR, Bautista, J, Fiol, M, Hayward, J, Helmers, S, Park, K, Sirven, J, Thio, LL, Venkat, A, Weisenberg, J, Kuperman, R, McGuire, S, Novotny, E, Sadleir, L, Allen, AS, Aggarwal, V, Berkovic, SF, Cossette, P, Delanty, N, Dlugos, D, Eichler, EE, Epstein, MP, Freyer, C, Goldstein, DB, Guerrini, R, Glauser, T, Heinzen, EL, Johnson, MR, Kuzniecky, R, Lowenstein, DH, Marson, AG, Mefford, HC, O'Brien, TJ, Ottman, R, Poduri, A, Petrou, S, Petrovski, S, Ruzzo, EK, Scheffer, IE, Sherr, EH, Abou-Khalil, B, Amrom, D, Andermann, E, Andermann, F, Bluvstein, J, Boro, A, Cascino, G, Consalvo, D, Crumrine, P, Devinsky, O, Fountain, N, Friedman, D, Geller, E, Glynn, S, Haas, K, Haut, S, Joshi, S, Kirsch, H, Knowlton, R, Kossoff, E, Motika, PV, Paolicchi, JM, Parent, JM, Shellhaas, RA, Shih, JJ, Shinnar, S, Singh, RK, Sperling, M, Smith, MC, Sullivan, J, Vining, EPG, Von Allmen, GK, Widdess-Walsh, P, Winawer, MR, Bautista, J, Fiol, M, Hayward, J, Helmers, S, Park, K, Sirven, J, Thio, LL, Venkat, A, Weisenberg, J, Kuperman, R, McGuire, S, Novotny, E, and Sadleir, L

Abstract

OBJECTIVE: We sought to identify novel genes and to establish the contribution of known genes in a large cohort of patients with nonsyndromic sporadic polymicrogyria and epilepsy. METHODS: We enrolled participants with polymicrogyria and their parents through the Epilepsy Phenome/Genome Project. We performed phenotyping and whole exome sequencing (WES), trio analysis, and gene-level collapsing analysis to identify de novo or inherited variants, including germline or mosaic (postzygotic) single nucleotide variants, small insertion-deletion (indel) variants, and copy number variants present in leukocyte-derived DNA. RESULTS: Across the cohort of 86 individuals with polymicrogyria and epilepsy, we identified seven with pathogenic or likely pathogenic variants in PIK3R2, including four germline and three mosaic variants. PIK3R2 was the only gene harboring more than expected de novo variants across the entire cohort, and likewise the only gene that passed the genome-wide threshold of significance in the gene-level rare variant collapsing analysis. Consistent with previous reports, the PIK3R2 phenotype consisted of bilateral polymicrogyria concentrated in the perisylvian region with macrocephaly. Beyond PIK3R2, we also identified one case each with likely causal de novo variants in CCND2 and DYNC1H1 and biallelic variants in WDR62, all genes previously associated with polymicrogyria. Candidate genetic explanations in this cohort included single nucleotide de novo variants in other epilepsy-associated and neurodevelopmental disease-associated genes (SCN2A in two individuals, GRIA3, CACNA1C) and a 597-kb deletion at 15q25, a neurodevelopmental disease susceptibility locus. SIGNIFICANCE: This study confirms germline and postzygotically acquired de novo variants in PIK3R2 as an important cause of bilateral perisylvian polymicrogyria, notably with macrocephaly. In total, trio-based WES identified a genetic diagnosis in 12% and a candidate diagnosis in 6% of our polymicrogyria

Published
2021

3. Attachment and child behaviour and emotional problems in autism spectrum disorder with intellectual disability

Author

Teague SJ, Newman LK, Tonge BJ, Gray KM, Aery A, Andersson E, Arciuli J, Arora S, Bezzina L, Blackmore R, Borland R, Caruana J, Cawood D, Clarke K, Day J, Dossetor D, Einfeld S, Emerson E, Evans H, Fernandez A, Goodall S, Haas K, Henderson K, Henry T, Hinton S, Hoath F, Hodges J, Horstead S, Howlin P, Hu N, Keating C, Kelly E, Knott R, Kotselas P, Louie E, McAuliffe Z, O’Hagan G, Panahi B, Phillis K, Rice L, Rose O, Rotolone C, Salvador-Carulla L, Sanders M, Schoch M, Shortt F, Silove N, Sofronoff K, Stace L, Taffe J, Thompson DM, Viney R, Wallman E, Teague SJ, Newman LK, Tonge BJ, Gray KM, Aery A, Andersson E, Arciuli J, Arora S, Bezzina L, Blackmore R, Borland R, Caruana J, Cawood D, Clarke K, Day J, Dossetor D, Einfeld S, Emerson E, Evans H, Fernandez A, Goodall S, Haas K, Henderson K, Henry T, Hinton S, Hoath F, Hodges J, Horstead S, Howlin P, Hu N, Keating C, Kelly E, Knott R, Kotselas P, Louie E, McAuliffe Z, O’Hagan G, Panahi B, Phillis K, Rice L, Rose O, Rotolone C, Salvador-Carulla L, Sanders M, Schoch M, Shortt F, Silove N, Sofronoff K, Stace L, Taffe J, Thompson DM, Viney R, and Wallman E

Abstract

© 2019 John Wiley & Sons Ltd Background: Behaviour and emotional problems are highly prevalent in children with autism spectrum disorder (ASD). In typically developing children, attachment quality acts as a risk/protective factor for behavioural outcomes and adjustment, warranting investigation in children with ASD. Method: We investigated the relationship between attachment and child behaviour and emotional problems in children with ASD and comorbid intellectual disability. Data were collected from parent–child dyads where children were diagnosed with ASD and ID (n = 28) or other developmental disabilities (n = 20). Results: Children with ASD had higher levels of behaviour and emotional problems and more attachment difficulties than children with other developmental disabilities. Poorer attachment quality contributed uniquely to the variance in child behaviour and emotional problems. Conclusions: Interventions targeting behaviour and emotional problems in children with ASD may benefit from an attachment model which addresses the child's difficulty in using caregivers as a coregulatory agent of emotions.

Published
2020

4. Attachment and child behaviour and emotional problems in autism spectrum disorder with intellectual disability

Author

Teague SJ, Newman LK, Tonge BJ, Gray KM, Aery A, Andersson E, Arciuli J, Arora S, Bezzina L, Blackmore R, Borland R, Caruana J, Cawood D, Clarke K, Day J, Dossetor D, Einfeld S, Emerson E, Evans H, Fernandez A, Goodall S, Haas K, Henderson K, Henry T, Hinton S, Hoath F, Hodges J, Horstead S, Howlin P, Hu N, Keating C, Kelly E, Knott R, Kotselas P, Louie E, McAuliffe Z, O’Hagan G, Panahi B, Phillis K, Rice L, Rose O, Rotolone C, Salvador-Carulla L, Sanders M, Schoch M, Shortt F, Silove N, Sofronoff K, Stace L, Taffe J, Thompson DM, Viney R, and Wallman E

Subjects
Male, Autism Spectrum Disorder, Developmental Disabilities, Rehabilitation, Child Behavior, Comorbidity, behavioral disciplines and activities, Object Attachment, Child, Preschool, Intellectual Disability, mental disorders, Humans, 1607 Social Work, 1701 Psychology, 1702 Cognitive Sciences, Female, Affective Symptoms, Child
Abstract

© 2019 John Wiley & Sons Ltd Background: Behaviour and emotional problems are highly prevalent in children with autism spectrum disorder (ASD). In typically developing children, attachment quality acts as a risk/protective factor for behavioural outcomes and adjustment, warranting investigation in children with ASD. Method: We investigated the relationship between attachment and child behaviour and emotional problems in children with ASD and comorbid intellectual disability. Data were collected from parent–child dyads where children were diagnosed with ASD and ID (n = 28) or other developmental disabilities (n = 20). Results: Children with ASD had higher levels of behaviour and emotional problems and more attachment difficulties than children with other developmental disabilities. Poorer attachment quality contributed uniquely to the variance in child behaviour and emotional problems. Conclusions: Interventions targeting behaviour and emotional problems in children with ASD may benefit from an attachment model which addresses the child's difficulty in using caregivers as a coregulatory agent of emotions.

Published
2019

5. Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies

Author

Abou-Khalil, B, Afawi, Z, Allen, AS, Bautista, JF, Bellows, ST, Berkovic, SF, Bluvstein, J, Burgess, R, Cascino, G, Cossette, P, Cristofaro, S, Crompton, DE, Delanty, N, Devinsky, O, Dlugos, D, Ellis, CA, Epstein, MP, Fountain, NB, Freyer, C, Geller, EB, Glauser, T, Glynn, S, Goldberg-Stern, H, Goldstein, DB, Gravel, M, Haas, K, Haut, S, Heinzen, EL, Kirsch, HE, Kivity, S, Knowlton, R, Korczyn, AD, Kossoff, E, Kuzniecky, R, Loeb, R, Lowenstein, DH, Marson, AG, McCormack, M, McKenna, K, Mefford, HC, Motika, P, Mullen, SA, O'Brien, TJ, Ottman, R, Paolicchi, J, Parent, JM, Paterson, S, Petrou, S, Petrovski, S, Pickrell, WO, Poduri, A, Rees, MI, Sadleir, LG, Scheffer, IE, Shih, J, Singh, R, Sirven, J, Smith, M, Smith, PEM, Thio, LL, Thomas, RH, Venkat, A, Vining, E, Von Allmen, G, Weisenberg, J, Widdess-Walsh, P, Winawer, MR, Abou-Khalil, B, Afawi, Z, Allen, AS, Bautista, JF, Bellows, ST, Berkovic, SF, Bluvstein, J, Burgess, R, Cascino, G, Cossette, P, Cristofaro, S, Crompton, DE, Delanty, N, Devinsky, O, Dlugos, D, Ellis, CA, Epstein, MP, Fountain, NB, Freyer, C, Geller, EB, Glauser, T, Glynn, S, Goldberg-Stern, H, Goldstein, DB, Gravel, M, Haas, K, Haut, S, Heinzen, EL, Kirsch, HE, Kivity, S, Knowlton, R, Korczyn, AD, Kossoff, E, Kuzniecky, R, Loeb, R, Lowenstein, DH, Marson, AG, McCormack, M, McKenna, K, Mefford, HC, Motika, P, Mullen, SA, O'Brien, TJ, Ottman, R, Paolicchi, J, Parent, JM, Paterson, S, Petrou, S, Petrovski, S, Pickrell, WO, Poduri, A, Rees, MI, Sadleir, LG, Scheffer, IE, Shih, J, Singh, R, Sirven, J, Smith, M, Smith, PEM, Thio, LL, Thomas, RH, Venkat, A, Vining, E, Von Allmen, G, Weisenberg, J, Widdess-Walsh, P, and Winawer, MR

Abstract

OBJECTIVE: Classification of epilepsy into types and subtypes is important for both clinical care and research into underlying disease mechanisms. A quantitative, data-driven approach may augment traditional electroclinical classification and shed new light on existing classification frameworks. METHODS: We used latent class analysis, a statistical method that assigns subjects into groups called latent classes based on phenotypic elements, to classify individuals with common familial epilepsies from the Epi4K Multiplex Families study. Phenotypic elements included seizure types, seizure symptoms, and other elements of the medical history. We compared class assignments to traditional electroclinical classifications and assessed familial aggregation of latent classes. RESULTS: A total of 1120 subjects with epilepsy were assigned to five latent classes. Classes 1 and 2 contained subjects with generalized epilepsy, largely reflecting the distinction between absence epilepsies and younger onset (class 1) versus myoclonic epilepsies and older onset (class 2). Classes 3 and 4 contained subjects with focal epilepsies, and in contrast to classes 1 and 2, these did not adhere as closely to clinically defined focal epilepsy subtypes. Class 5 contained nearly all subjects with febrile seizures plus or unknown epilepsy type, as well as a few subjects with generalized epilepsy and a few with focal epilepsy. Family concordance of latent classes was similar to or greater than concordance of clinically defined epilepsy types. SIGNIFICANCE: Quantitative classification of epilepsy has the potential to augment traditional electroclinical classification by (1) combining some syndromes into a single class, (2) splitting some syndromes into different classes, (3) helping to classify subjects who could not be classified clinically, and (4) defining the boundaries of clinically defined classifications. This approach can guide future research, including molecular genetic studies, by identifyi

Published
2019

9. Chondro/osteoblastic and cardiovascular gene modulation in human artery smooth muscle cells that calcify in the presence of phosphate and calcitriol or paricalcitol

Author

Shalhoub, V., primary, Shatzen, E.M., additional, Ward, S.C., additional, Young, J‐I., additional, Boedigheimer, M., additional, Twehues, L., additional, McNinch, J., additional, Scully, S., additional, Twomey, B., additional, Baker, D., additional, Kiaei, P., additional, Damore, M.A., additional, Pan, Z., additional, Haas, K., additional, and Martin, D., additional

Published
2010
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22. Does the combination of fronto-maxillary facial angle and nasal bone evaluation improve the detection of Down syndrome in the second trimester?

Author

Odibo AO, Schoenborn JA, Haas K, and Macones GA

Subjects
Adult, Biometry methods, Case-Control Studies, Female, Gestational Age, Humans, Observer Variation, Pregnancy, Reproducibility of Results, Single-Blind Method, Young Adult, Down Syndrome diagnostic imaging, Face diagnostic imaging, Maxilla diagnostic imaging, Nasal Bone diagnostic imaging, Pregnancy Trimester, Second, Ultrasonography, Prenatal methods
Abstract

Objective: To determine if the combination of fronto-maxillary facial (FMF) angle and nasal bone (NB) evaluation improves the detection of Down syndrome (DS) in the second trimester., Study Design: We compared the FMF angle measurements in euploid and DS fetuses seen between 2005 and 2008. The FMF angles were measured from stored two-dimensional (2-D) images by investigators blinded to the DS status of the fetus. All NB measurements were obtained prospectively. Receiver operator characteristic curve plot was used to determine the optimal definition for abnormal FMF angle. The detection and false positive rates and likelihood ratios positive and negative for the DS markers and their combinations were compared., Results: Of 22 fetuses with DS seen between 16 and 22 weeks over the study period, NB and FMF angle evaluation was available for 21. These were compared with a control group of 201 fetuses seen at similar gestational age ranges without DS. NB alone identified 10/21 (47.6%) of Down syndrome while FMF angle identified 2/21 (9.5%). The combination of FMF angle and NB identified only one additional case of Down syndrome., Conclusions: While FMF angle and NB are independent markers for DS, their combination resulted in a minimal but nonsignificant improvement in DS detection.

Published
2009
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23. Resistance of immature hippocampus to morphologic and physiologic alterations following status epilepticus or kindling.

Author

Haas KZ, Sperber EF, Opanashuk LA, Stanton PK, and Moshé SL

Subjects
Aging physiology, Animals, Animals, Newborn growth & development, Cell Count, Electric Stimulation methods, Excitatory Amino Acid Agonists, Female, In Vitro Techniques, Kainic Acid, Male, Mossy Fibers, Hippocampal pathology, Mossy Fibers, Hippocampal physiology, Neural Inhibition, Neuronal Plasticity, Neurons pathology, Perforant Pathway physiopathology, Rats, Rats, Sprague-Dawley, Seizures etiology, Seizures pathology, Seizures physiopathology, Status Epilepticus chemically induced, Animals, Newborn physiology, Hippocampus pathology, Hippocampus physiopathology, Kindling, Neurologic, Status Epilepticus pathology, Status Epilepticus physiopathology
Abstract

Seizures in adult rats result in long-term deficits in learning and memory, as well as an enhanced susceptibility to further seizures. In contrast, fewer lasting changes have been found following seizures in rats younger than 20 days old. This age-dependency could be due to differing amounts of hippocampal neuronal damage produced by seizures at different ages. To determine if there is an early developmental resistance to seizure-induced hippocampal damage, we compared the effects of kainic acid (KA)-induced status epilepticus and amygdala kindling on hippocampal dentate gyrus anatomy and electrophysiology, in immature (16 day old) and adult rats. In adult rats, KA status epilepticus resulted in numerous silver-stained degenerating dentate hilar neurons, pyramidal cells in fields CA1 and CA3, and marked numerical reductions in CA3c pyramidal neuron counts (-57%) in separate rats. Two weeks following the last kindled seizure, some, but significantly less, CA3c pyramidal cell loss was observed (-26%). Both KA status epilepticus and kindling in duced mossy-fiber sprouting, as evidenced by ectopic Timm staining in supragranular layers of the dentate gyrus. In hippocampal slices from adult rats, paired-pulse stimulation of perforant path axons revealed a persistent enhancement of dentate granule-cell inhibition following KA status epilepticus or kindling. While seizures induced by KA or kindling in 16-day-old rats were typically more severe than in adults, the immature hippocampus exhibited markedly less KA-induced cell loss (-22%), no kindling-induced loss, no detectable synaptic rearrangement, and no change in dentate inhibition. These results demonstrate that, in immature rats, neither severe KA-induced seizures nor repeated kindled seizures produce the kind of hippocampal damage and changes associated with even less severe seizures in adults. The lesser magnitude of seizure-induced hippocampal alterations in immature rats may explain their greater resistance to long-term effects of seizures on neuronal function, as well as future seizure susceptibility. Conversely, hippocampal neuron loss and altered synaptic physiology in adults may contribute to increased sensitivity to epileptogenic stimuli, spontaneous seizures, and behavioral deficits.

Published
2001
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