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Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.

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Title: Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.
Authors: Riant F; AP-HP, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, Paris, France., Burglen L; Département de Génétique et Embryologie Médicale, APHP, Sorbonne Université, Centre de Référence Malformations et Maladies Congénitales du Cervelet, Hôpital Trousseau, Paris, France., Corpechot M; AP-HP, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, Paris, France., Robert J; AP-HP, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, Paris, France., Durr A; Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Solé G; Service de Neurologie, Unité Neuromusculaire, CHU de Bordeaux - Hôpital Pellegrin, Bordeaux, France., Petit F; CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France., Freihuber C; Service de Neuropédiatrie, APHP, Hôpital Trousseau, Paris, France., De Marco O; Service de Neurologie, Hôpital de La Roche sur Yon, La Roche sur Yon, France., Sarret C; Service de Pédiatrie, Hôpital Estaing, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France., Castelnovo G; Service de Neurologie, CHU Nîmes, Hôpital Caremeau, Nîmes, France., Devillard F; Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France., Afenjar A; Département de Génétique et Embryologie Médicale, APHP, Sorbonne Université, Centre de Référence Malformations et Maladies Congénitales du Cervelet, Hôpital Trousseau, Paris, France., Héron B; Service de Neuropédiatrie, APHP, Hôpital Trousseau, Paris, France., Lasserve ET; AP-HP, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, Paris, France.
Source: Clinical genetics [Clin Genet] 2023 Sep; Vol. 104 (3), pp. 365-370. Date of Electronic Publication: 2023 May 13.
Publication Type: Journal Article
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.
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  Data: <searchLink fieldCode="AU" term="%22Riant+F%22">Riant F</searchLink>; AP-HP, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, Paris, France.<br /><searchLink fieldCode="AU" term="%22Burglen+L%22">Burglen L</searchLink>; Département de Génétique et Embryologie Médicale, APHP, Sorbonne Université, Centre de Référence Malformations et Maladies Congénitales du Cervelet, Hôpital Trousseau, Paris, France.<br /><searchLink fieldCode="AU" term="%22Corpechot+M%22">Corpechot M</searchLink>; AP-HP, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, Paris, France.<br /><searchLink fieldCode="AU" term="%22Robert+J%22">Robert J</searchLink>; AP-HP, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, Paris, France.<br /><searchLink fieldCode="AU" term="%22Durr+A%22">Durr A</searchLink>; Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.<br /><searchLink fieldCode="AU" term="%22Solé+G%22">Solé G</searchLink>; Service de Neurologie, Unité Neuromusculaire, CHU de Bordeaux - Hôpital Pellegrin, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Petit+F%22">Petit F</searchLink>; CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.<br /><searchLink fieldCode="AU" term="%22Freihuber+C%22">Freihuber C</searchLink>; Service de Neuropédiatrie, APHP, Hôpital Trousseau, Paris, France.<br /><searchLink fieldCode="AU" term="%22De+Marco+O%22">De Marco O</searchLink>; Service de Neurologie, Hôpital de La Roche sur Yon, La Roche sur Yon, France.<br /><searchLink fieldCode="AU" term="%22Sarret+C%22">Sarret C</searchLink>; Service de Pédiatrie, Hôpital Estaing, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.<br /><searchLink fieldCode="AU" term="%22Castelnovo+G%22">Castelnovo G</searchLink>; Service de Neurologie, CHU Nîmes, Hôpital Caremeau, Nîmes, France.<br /><searchLink fieldCode="AU" term="%22Devillard+F%22">Devillard F</searchLink>; Département de Génétique et Procréation, Hôpital Couple-Enfant, CHU de Grenoble, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Afenjar+A%22">Afenjar A</searchLink>; Département de Génétique et Embryologie Médicale, APHP, Sorbonne Université, Centre de Référence Malformations et Maladies Congénitales du Cervelet, Hôpital Trousseau, Paris, France.<br /><searchLink fieldCode="AU" term="%22Héron+B%22">Héron B</searchLink>; Service de Neuropédiatrie, APHP, Hôpital Trousseau, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lasserve+ET%22">Lasserve ET</searchLink>; AP-HP, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, Paris, France.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2023 Sep; Vol. 104 (3), pp. 365-370. <i>Date of Electronic Publication: </i>2023 May 13.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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