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Literature DB >> 18758887

Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family.

Agathe Roubertie, Bernard Echenne, Julie Leydet, Sophie Soete, Benjamin Krams, Francois Rivier, Florence Riant, Elisabeth Tournier-Lasserve.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2008 PMID： 18758887 DOI： 10.1007/s00415-008-0982-8

Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849

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13 in total

1. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons.

Authors: Pamela A Frischmeyer; Ambro van Hoof; Kathryn O'Donnell; Anthony L Guerrerio; Roy Parker; Harry C Dietz
Journal: Science Date: 2002-03-22 Impact factor: 47.728

2. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.

Authors: A Ducros; C Denier; A Joutel; M Cecillon; C Lescoat; K Vahedi; F Darcel; E Vicaut; M G Bousser; E Tournier-Lasserve
Journal: N Engl J Med Date: 2001-07-05 Impact factor: 91.245

3. Primary structure and functional expression from complementary DNA of a brain calcium channel.

Authors: Y Mori; T Friedrich; M S Kim; A Mikami; J Nakai; P Ruth; E Bosse; F Hofmann; V Flockerzi; T Furuichi
Journal: Nature Date: 1991-04-04 Impact factor: 49.962

4. Benign paroxysmal tonic upward gaze.

Authors: B Echenne; F Rivier
Journal: Pediatr Neurol Date: 1992 Mar-Apr Impact factor: 3.372

5. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.

Authors: R A Ophoff; G M Terwindt; M N Vergouwe; R van Eijk; P J Oefner; S M Hoffman; J E Lamerdin; H W Mohrenweiser; D E Bulman; M Ferrari; J Haan; D Lindhout; G J van Ommen; M H Hofker; M D Ferrari; R R Frants
Journal: Cell Date: 1996-11-01 Impact factor: 41.582

6. Benign paroxysmal torticollis of infancy.

Authors: P Drigo; G Carli; A M Laverda
Journal: Brain Dev Date: 2000-05 Impact factor: 1.961

7. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

Authors: O Zhuchenko; J Bailey; P Bonnen; T Ashizawa; D W Stockton; C Amos; W B Dobyns; S H Subramony; H Y Zoghbi; C C Lee
Journal: Nat Genet Date: 1997-01 Impact factor: 38.330

8. Clinical spectrum of episodic ataxia type 2.

Authors: J Jen; G W Kim; R W Baloh
Journal: Neurology Date: 2004-01-13 Impact factor: 9.910

9. Benign paroxysmal tonic upgaze of childhood.

Authors: R A Ouvrier; F Billson
Journal: J Child Neurol Date: 1988-07 Impact factor: 1.987

10. A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression.

Authors: Arn M J M van den Maagdenberg; Daniela Pietrobon; Tommaso Pizzorusso; Simon Kaja; Ludo A M Broos; Tiziana Cesetti; Rob C G van de Ven; Angelita Tottene; Jos van der Kaa; Jaap J Plomp; Rune R Frants; Michel D Ferrari
Journal: Neuron Date: 2004-03-04 Impact factor: 17.173

15 in total

Review 10. Paroxysmal Movement Disorders.

Authors: Susan Harvey; Mary D King; Kathleen M Gorman
Journal: Front Neurol Date: 2021-06-11 Impact factor: 4.003

Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family.

1. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons.

2. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.

3. Primary structure and functional expression from complementary DNA of a brain calcium channel.

4. Benign paroxysmal tonic upward gaze.

5. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.

6. Benign paroxysmal torticollis of infancy.

7. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

8. Clinical spectrum of episodic ataxia type 2.

9. Benign paroxysmal tonic upgaze of childhood.

10. A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression.

Review 1. Convergent mechanisms in etiologically-diverse dystonias.

Review 2. The Clinical Spectrum of Autosomal-Dominant Episodic Ataxias.

Review 3. Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

4. Dystonia and cerebellar degeneration in the leaner mouse mutant.

5. The complexities of CACNA1A in clinical neurogenetics.

6. Williams syndrome with a "twist".

7. Limited regional cerebellar dysfunction induces focal dystonia in mice.

Review 8. Movement Disorders in Genetic Pediatric Ataxias.

9. Benign paroxysmal torticollis: phenotype, natural history, and quality of life.

Review 10. Paroxysmal Movement Disorders.