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<!DOCTYPE html> <html> <head> <meta charset="utf-8"> <meta name="viewport" content="width=device-width, initial-scale=1.0, maximum-scale=1.0, user-scalable=no" /> <title>Crossmark</title> <link href="https://crossmark-cdn.crossref.org/main.css" rel="stylesheet"> <link rel="apple-touch-icon" sizes="57x57" href="https://assets.crossref.org/favicon/apple-touch-icon-57x57.png"> <link rel="apple-touch-icon" sizes="60x60" href="https://assets.crossref.org/favicon/apple-touch-icon-60x60.png"> <link rel="apple-touch-icon" sizes="72x72" href="https://assets.crossref.org/favicon/apple-touch-icon-72x72.png"> <link rel="apple-touch-icon" sizes="76x76" href="https://assets.crossref.org/favicon/apple-touch-icon-76x76.png"> <link rel="apple-touch-icon" sizes="114x114" href="https://assets.crossref.org/favicon/apple-touch-icon-114x114.png"> <link rel="apple-touch-icon" sizes="120x120" href="https://assets.crossref.org/favicon/apple-touch-icon-120x120.png"> <link rel="apple-touch-icon" sizes="144x144" 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content="Crossref"> <meta name="application-name" content="Crossref"> <meta name="msapplication-TileColor" content="#da532c"> <meta name="msapplication-TileImage" content="https://assets.crossref.org/favicon/mstile-144x144.png"> <meta name="theme-color" content="#ffffff"> </head> <body> <section class="page"> <div class="header"> <img class="header__logo" src="https://crossmark-cdn.crossref.org/images/logo-crossmark.svg"> </div> <section class="document-status document-status--current"> <header class="document-status__header"> <h1 class="document-status__title"> <span class="document-status__title__text">Document is current</span> </h1> <h2 class="document-status__subtitle"> <span class="document-status__subtitle__text">Any future updates will be listed below</span> </h2> </header> </section> <section class="document-metadata"> <p class="document-metadata__text">Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures</p> <p class="document-metadata__text"> Crossref DOI link: <a href="https://doi.org/10.1007/s00439-016-1726-y" target="_blank">https://doi.org/10.1007/s00439-016-1726-y</a> </p> <p class="document-metadata__text">Published Online: 2016-08-27</p> <p class="document-metadata__text">Published Print: 2016-11</p> <p class="document-metadata__text">Update policy: <a href="https://doi.org/10.1007/springer_crossmark_policy" target="_blank">https://doi.org/10.1007/springer_crossmark_policy</a></p> </section> <ul class="records"> <li class="records__item"> <a class="records__item__link" role="button" data-toggle="author-collapse" aria-expanded="false" aria-controls="author-collapse">Authors</a> <div class="records__item__content" id="author-collapse"> <div class="records__item__content__block"> <p class="records__item__content__text">Tabarki, Brahim </p> <p class="records__item__content__text">AlMajhad, Nabil </p> <p class="records__item__content__text">AlHashem, Amal </p> <p class="records__item__content__text">Shaheen, Ranad </p> <p class="records__item__content__text">Alkuraya, Fowzan S. </p> </div> </div> </li> <li class="records__item"> <a class="records__item__link" role="button" data-toggle="funder-collapse" aria-expanded="false" aria-controls="funder-collapse">Funding</a> <div class="records__item__content" id="funder-collapse"> <div class="records__item__content__block"> <p class="records__item__content__text records__item__content__text--standfirst">Funding for this research was provided by:</p> <p class="records__item__content__text">King Abdulaziz City for Science and Technology (by KACST grant 13-BIO1113-20 (FSA).)</p> </div> </div> </li> <li class="records__item"> <a class="records__item__link" role="button" data-toggle="license-collapse" aria-expanded="false" aria-controls="license-collapse">License Information</a> <div class="records__item__content" id="license-collapse"> <div class="records__item__content__block"> <p 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