Results 61 to 70 of about 2,519,053 (161)

Migraine with aura is not linked to the FHM gene CACNA1A or the chromosomal region, 19p13.

, 2002
Two microsatellite markers, tightly linked to CACNA1A, were genotyped in migraine with aura (MA) families to determine if this gene, which underlies the 19p13 linked forms of familial hemiplegic migraine, is also linked to MA.
Cader, Muhammed, Rice, GP, Brown, JD, Ebers, GC, Dyment, DA, Ebers, George, Cader, MZ, Ganapathy, R, Noble-Topham, SE   +8 more
core   +1 more source

CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability [PDF]

Haploinsufficiency of the CACNA1A gene, encoding the pore-forming α1 subunit of P/Q-type voltage-gated calcium channels, is associated with a clinically variable phenotype ranging from cerebellar ataxia, to neurodevelopmental syndromes with epilepsy and ...
Puvogel, Sofía, Lewerissa, Elly I, Oudakker, Astrid, Kampshoff, Franziska, Schubert, Dirk, Mordelt, Annika, Dolga, Amalia M, Dillen, Lieke, Kogo, Naoki, Frega, Monica, van Beusekom, Ellen, van Bokhoven, Hans, Ciptasari, Ummi, Doorn, Nina; id_orcid, Hommersom, Marina   +14 more
core   +3 more sources

Head tremor related to CACNA1A mutations

, 2011
Introduction: Familial hemiplegic migraine (FHM) is characterized by the familial occurrence of migraine attacks with fully reversible transient hemiplegia. Mutations in three different genes have been identified; CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (
Geerlings, Rianne Pj, Geerlings, R.P.J., Haane, D.Y.P., Elles MJ Boon, Haan, J., Koehler, Peter J., Rianne PJ Geerlings, Haane, Danielle Yp, Boukje de Vries, Boon, Elles Mj, Stam, Anine H., Stam, A.H., Boon, E.M.J., De Vries, Boukje, Vries, B. de, Joost Haan, Haan, Joost, Danielle YP Haane, Koehler, P.J., Anine H Stam, Peter J Koehler   +20 more
core   +1 more source

AUTS2 Governs Cerebellar Development, Purkinje Cell Maturation, Motor Function and Social Communication

iScience, 2020
Summary: Autism susceptibility candidate 2 (AUTS2), a risk gene for autism spectrum disorders (ASDs), is implicated in telencephalon development. Because AUTS2 is also expressed in the cerebellum where defects have been linked to ASDs, we investigated ...
Kunihiko Yamashiro, Kei Hori, Esther S.K. Lai, Ryo Aoki, Kazumi Shimaoka, Nariko Arimura, Saki F. Egusa, Asami Sakamoto, Manabu Abe, Kenji Sakimura, Takaki Watanabe, Naofumi Uesaka, Masanobu Kano, Mikio Hoshino   +13 more
doaj   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia

, 1999
OBJECTIVE: To search for mutations in the calcium channel gene CACNA1A and to study the genotype-phenotype correlation in a family with a severe familial hemiplegic migraine (FHM) phenotype and a slowly progressive cerebellar ataxia.
GIANNINI, F., GELFI, C., ROCCHI, R., FERRARI, M., BATTISTINI, N., CARRERA, P., PIATTI, M., STENIRRI, S., RIGHETTI, P. G., BATTISTINI, S., GUAZZI, G. C.   +10 more
core   +1 more source

Is there any Genetic Correlation between CACNA1A Gene and Common Migraine in Iran?

مجله دانشکده پزشکی اصفهان, 2013
Background: Familial hemiplegic migraine (FHM), a rare type of migraine with aura, is genetically heterogeneous. Involvement of CACNA1A gene is demonstrated in FHM. In the present study, we searched for 6 common mutations in CACNA1A gene in patients with
Maryam Ostadsharif, Abbas Ghorbani, Mansoor Salehi, Rokhsareh Meamar   +3 more
doaj  

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

Eye movement disorders are an early manifestation of CACNA1A mutations in children

, 2016
Free to read at publisher\ud \ud Aim\ud \ud The alpha-1 isoform of the calcium channel gene is expressed abundantly in neuronal tissue, especially within the cerebellum. Mutations in this gene may manifest with hemiplegic migraine, spinocerebellar ataxia
Menezes, Manoj P., Tantsis, Esther M., Troedson, Christopher, Riant, Florence, Gupta, Sachin, Smith, Robert, Gill, Deepak, Griffiths, Lyn, Ouvrier, Robert, Maksemous, Neven, Webster, Richard, Lawson, John   +11 more
core   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source