Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia-Reference-Cited by-同舟云学术

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Published:2023-01 Issue:1 Volume:25 Page:76-89
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Morsy Heba^ORCID,Benkirane Mehdi,Cali Elisa,Rocca Clarissa,Zhelcheska Kristina,Cipriani Valentina,Galanaki Evangelia,Maroofian Reza,Efthymiou Stephanie,Murphy David,O’Driscoll Mary,Suri Mohnish,Banka Siddharth,Clayton-Smith Jill,Wright Thomas,Redman Melody,Bassetti Jennifer A.,Nizon Mathilde,Cogne Benjamin,Jamra Rami Abu,Bartolomaeus Tobias,Heruth Marion,Krey Ilona,Gburek-Augustat Janina,Wieczorek Dagmar,Gattermann Felix,Mcentagart Meriel,Goldenberg Alice,Guyant-Marechal Lucie,Garcia-Moreno Hector,Giunti Paola,Chabrol Brigitte,Bacrot Severine,Buissonnière Roger,Magry Virginie,Gowda Vykuntaraju K.,Srinivasan Varunvenkat M.,Melegh Béla,Szabó András,Sümegi Katalin,Cossée Mireille,Ziff Monica,Butterfield Russell,Hunt David,Bird-Lieberman Georgina,Hanna Michael,Koenig Michel,Stankewich Michael,Vandrovcova Jana,Houlden Henry,Ambrose J.C.,Arumugam P.,Baple E.L.,Bleda M.,Boardman-Pretty F.,Boissiere J.M.,Boustred C.R.,Brittain H.,Caulfield M.J.,Chan G.C.,Craig C.E.H.,Daugherty L.C.,de Burca A.,Devereau A.,Elgar G.,Foulger R.E.,Fowler T.,Furió-Tarí P.,Hackett J.M.,Halai D.,Hamblin A.,Henderson S.,Holman J.E.,Hubbard T.J.P.,Ibáñez K.,Jackson R.,Jones L.J.,Kasperaviciute D.,Kayikci M.,Lahnstein L.,Lawson K.,Leigh S.E.A.,Leong I.U.S.,Lopez F.J.,Maleady-Crowe F.,Mason J.,McDonagh E.M.,Moutsianas L.,Mueller M.,Murugaesu N.,Need A.C.,Odhams C.A.,Patch C.,Perez-Gil D.,Polychronopoulos D.,Pullinger J.,Rahim T.,Rendon A.,Riesgo-Ferreiro P.,Rogers T.,Ryten M.,Savage K.,Sawant K.,Scott R.H.,Siddiq A.,Sieghart A.,Smedley D.,Smith K.R.,Sosinsky A.,Spooner W.,Stevens H.E.,Stuckey A.,Sultana R.,Thomas E.R.A.,Thompson S.R.,Tregidgo C.,Tucci A.,Walsh E.,Watters S.A.,Welland M.J.,Williams E.,Witkowska K.,Wood S.M.,Zarowiecki M.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference24 articles.

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3. Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy;Beijer;Brain,2019

4. SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia;Leveille;J Hum Genet,2019

5. Age-dependent ataxia and neurodegeneration caused by an αII spectrin mutation with impaired regulation of its calpain sensitivity;Miazek;Sci Rep,2021

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