Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases von Perenthaler, Elena, Nikoncuk, Anita, Yousefi, Soheil, Berdowski, Woutje M., Alsagob, Maysoon, Capo, Ivan, van der Linde, Herma C., van den Berg, Paul, Jacobs, Edwin H., Putar, Darija, Ghazvini, Mehrnaz, Aronica, Eleonora, van IJcken, Wilfred F. J., de Valk, Walter G., Medici-van den Herik, Evita, van Slegtenhorst, Marjon, Brick, Lauren, Kozenko, Mariya, Kohler, Jennefer N., Bernstein, Jonathan A., Monaghan, Kristin G., Begtrup, Amber, Torene, Rebecca, Al Futaisi, Amna, Al Murshedi, Fathiya, Mani, Renjith, Al Azri, Faisal, Kamsteeg, Erik-Jan, Mojarrad, Majid, Eslahi, Atieh, Khazaei, Zaynab, Darmiyan, Fateme Massinaei, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Vandrovcova, Jana, Zafar, Faisal, Rana, Nuzhat, Kandaswamy, Krishna K., Hertecant, Jozef, Bauer, Peter, AlMuhaizea, Mohammed A., Salih, Mustafa A., Aldosary, Mazhor, Almass, Rawan, Al-Quait, Laila, Qubbaj, Wafa, Coskun, Serdar, Alahmadi, Khaled O., Hamad, Muddathir H. A., Alwadaee, Salem, Awartani, Khalid, Dababo, Anas M., Almohanna, Futwan, Colak, Dilek, Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Gunel, Murat, Ercan-Sencicek, A. Gulhan, Passi, Gouri Rao, Cheema, Huma Arshad, Efthymiou, Stephanie, Houlden, Henry, Bertoli-Avella, Aida M., Brooks, Alice S., Retterer, Kyle, Maroofian, Reza, Kaya, Namik, van Ham, Tjakko J., Barakat, Tahsin Stefan

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A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature von Al-Muhaizea, Mohammad A., AlMutairi, Faten, Almass, Rawan, AlHarthi, Safinaz, Aldosary, Mazhor S., Alsagob, Maysoon, AlOdaib, Ali, Colak, Dilek, Kaya, Namik

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A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4 von Al-Hassnan, Zuhair, AlDosary, Mazhor, AlHargan, Aljouhra, AlQudairy, Hanan, Almass, Rawan, Alahmadi, Khaled Omar, AlShahrani, Saif, AlBakheet, Albandary, Almuhaizea, Mohammad A, Taylor, Robert W, Colak, Dilek, Kaya, Namik

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Molecular and clinical spectra of FBXL4 deficiency von El‐Hattab, Ayman W., Dai, Hongzheng, Almannai, Mohammed, Wang, Julia, Faqeih, Eissa A., Al Asmari, Ali, Saleh, Mohammed A. M., Elamin, Mohammed A. O., Alfadhel, Majid, Alkuraya, Fowzan S., Hashem, Mais, Aldosary, Mazhor S., Almass, Rawan, Almutairi, Faten B., Alsagob, Maysoon, Al‐Owain, Mohammed, Al‐Sharfa, Shirin, Al‐Hassnan, Zuhair N., Rahbeeni, Zuhair, Al‐Muhaizea, Mohammed A., Makhseed, Nawal, Foskett, Gretchen K., Stevenson, David A., Gomez‐Ospina, Natalia, Lee, Chung, Boles, Richard G., Schrier Vergano, Samantha A., Wortmann, Saskia B., Sperl, Wolfgang, Opladen, Thomas, Hoffmann, Georg F., Hempel, Maja, Prokisch, Holger, Alhaddad, Bader, Mayr, Johannes A., Chan, Wenyaw, Kaya, Namik, Wong, Lee‐Jun C.

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Molecular characterization of Joubert syndrome in Saudi Arabia von Alazami, Anas M., Alshammari, Muneera J., Salih, Mustafa A., Alzahrani, Fatema, Hijazi, Hadia, Seidahmed, Mohammed Z., Abu Safieh, Leen, Aldosary, Mazhor, Khan, Arif O., Alkuraya, Fowzan S.

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A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families von Aldosary, Mazhor, Alsagob, Maysoon, AlQudairy, Hanan, González-Álvarez, Ana C, Arold, Stefan T, Dababo, Mohammad Anas, Alharbi, Omar A, Almass, Rawan, AlBakheet, AlBandary, AlSarar, Dalia, Qari, Alya, Al-Ansari, Mysoon M, Oláhová, Monika, Al-Shahrani, Saif A, AlSayed, Moeenaldeen, Colak, Dilek, Taylor, Robert W, AlOwain, Mohammed, Kaya, Namik

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SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion von Aldosary, Mazhor, Baselm, Shahad, Abdulrahim, Maha, Almass, Rawan, Alsagob, Maysoon, AlMasseri, Zainab, Huma, Rozeena, AlQuait, Laila, Al‐Shidi, Tarfa, Al‐Obeid, Eman, AlBakheet, Albandary, Alahideb, Basma, Alahaidib, Lujane, Qari, Alya, Taylor, Robert W., Colak, Dilek, AlSayed, Moeenaldeen D., Kaya, Namik

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Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis von Aldosary, Mazhor, Al-Otaibi, Maha, Al-Fadhli, Fatima, Kaya, Namik, Sulaiman, Raashda, Al-Owain, Mohammed

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Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy von Sulaiman, Raashda Ainuddin, Shaheen, Marwan Yassin, Al-Zaidan, Hamad, Al-Hassnan, Zuhair, Al-Sayed, Moeenaldeen, Rahbeeni, Zuhair, Bakshi, Nasir Ahmed, Kaya, Namik, Aldosary, Mazhor, Al-Owain, Mohammed

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Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking von Sanderson, Leslie E, Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A, Alzaidan, Hamad, AlDhalaan, Hesham, Perenthaler, Elena, van der Linde, Herma C, Nikoncuk, Anita, Kühn, Nikolas A, Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M, AlAhmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, AlHargan, Aljouhra, Albader, Anoud A, Binhumaid, Faisal S, Goljan, Ewa, Monies, Dorota, Mustafa, Osama M, Aldosary, Mazhor, AlBakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A, Karimiani, Ehsan Ghayoor, Meyer, Brian F, Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T, Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M, Schmidts, Miriam, Barakat, Tahsin Stefan, van Ham, Tjakko J, Kaya, Namik

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Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy von Altassan, Ruqaiah, AlQudairy, Hanan, AlJebreen, Sarah, AlMuhaizea, Mohammed, Al‐Hindi, Hindi, Pena‐Guerra, Karla A., Ghebeh, Hazem, Almzroua, Amer, Albakheet, Albandary, AlDosary, Mazhor, Colak, Dilek, Arold, Stefan T., Kaya, Namik

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Genetics of ataxia telangiectasia in a highly consanguineous population von Al‐Muhaizea, Mohammed A., Aldeeb, Hanouf, Almass, Rawan, Jaber, Hadeel, Binhumaid, Felwa, Alquait, Laila, Abukhalid, Musaad, Aldhalaan, Hesham, Alsagob, Maysoon, Al‐Bakheet, Albandary, Aldosary, Mazhor, Alkofide, Hadeel, Alrasheed, Maha M., Colak, Dilek, Kaya, Namik

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Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways von Aldosary, Mazhor, Al-Bakheet, AlBandary, Al-Dhalaan, Hesham, Almass, Rawan, Alsagob, Maysoon, Al-Younes, Banan, AlQuait, Laila, Mustafa, Osama Mufid, Bulbul, Mustafa, Rahbeeni, Zuhair, Alfadhel, Majid, Chedrawi, Aziza, Al-Hassnan, Zuhair, AlDosari, Mohammed, Al-Zaidan, Hamad, Al-Muhaizea, Mohammad A, AlSayed, Moeenaldeen D, Salih, Mustafa A, AlShammari, Mai, Faiyaz-Ul-Haque, Muhammad, Chishti, Mohammad Azhar, Al-Harazi, Olfat, Al-Odaib, Ali, Kaya, Namik, Colak, Dilek

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KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability von Kaya, Namik, Alsagob, Maysoon, D'Adamo, Maria Cristina, Al-Bakheet, Albandary, Hasan, Sonia, Muccioli, Maria, Almutairi, Faten B, Almass, Rawan, Aldosary, Mazhor, Monies, Dorota, Mustafa, Osama M, Alyounes, Banan, Kenana, Rosan, Al-Zahrani, Jawaher, Naim, Eva, Binhumaid, Faisal S, Qari, Alya, Almutairi, Fatema, Meyer, Brian, Plageman, Timothy F, Pessia, Mauro, Colak, Dilek, Al-Owain, Mohammed

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Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype von Al‐Bakheet, Albandary, Tohary, Mohamed, Khan, Sameena, Chedrawi, Aziza, Edrees, Alaa, Tous, Ehab, Al‐Mousa, Hamoud, Al‐Otaibi, Lefian, AlShahrani, Saif, Alsagob, Maysoon, Al‐Quait, Laila, Almass, Rawan, Al‐Joudi, Haya, Monies, Dorota, Al‐Semari, Abdulaziz, Aldosary, Mazhor, Daghestani, Maha, Colak, Dilek, Kaya, Namik, Al‐Owain, Mohammed

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A Novel Homozygous Founder Variant of IRTN4IP1/I in Two Consanguineous Saudi Families von Aldosary, Mazhor, Alsagob, Maysoon, AlQudairy, Hanan, González-Álvarez, Ana C, Arold, Stefan T, Dababo, Mohammad Anas, Alharbi, Omar A, Almass, Rawan, AlBakheet, AlBandary, AlSarar, Dalia, Qari, Alya, Al-Ansari, Mysoon M, Oláhová, Monika, Al-Shahrani, Saif A, AlSayed, Moeenaldeen, Colak, Dilek, Taylor, Robert W, AlOwain, Mohammed, Kaya, Namik

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Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy von Sulaiman, Raashda Ainuddin, Shaheen, Marwan Yassin, Al-Zaidan, Hamad, Al-Hassnan, Zuhair, Al-Sayed, Moeenaldeen, Rahbeeni, Zuhair, Bakshi, Nasir Ahmed, Kaya, Namik, Aldosary, Mazhor, Al-Owain, Mohammed

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