Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia

Rauan Kaiyrzhanov^{1

2}, Nazira Zharkinbekova³, Ulviyya Guliyeva⁴, Manizha Ganieva⁵, Zaruhi Tavadyan⁶, Tamar Gachechiladze⁷, Kamran Salayev⁸, Sughra Guliyeva⁴, Mariam Isayan⁶, Mariam Kekenadze⁹, Biayna Sukhudyan¹⁰, Ani Gevorgyan¹⁰, Artsruni Hakobyan¹¹, Rima Ibadova¹², Nazi Tabatadze⁷, Ekaterina Kurua⁷, Teona Shatirishvili¹³, Nigara Yerkhojayeva¹⁴, Kairgali Koneev¹⁵, Dauren Zhumakhanov¹⁶, Askhat Mukushev^{16

17}, Altynshash Jaxybayeva¹⁸, Alissa Nauryzbayeva¹⁹, Maksudjon Isrofilov⁵, Saadat Badalova²⁰, Naila Zeyniyeva²⁰, Ilaha Hajiyeva²¹, Leyla Alakbarov²², Aynur Zeynalova²³, Viorica Chelban^{24

25}, Jana Vandrovcova²⁴, Valentina Turchetti²⁴, David Murphy²⁶, Stephanie Efthymiou²⁴, Shahryar Alavi²⁴, Rahema Mohammad²⁴, Tinatin Tkemaladze^{27

28}, Chingiz Shashkin²⁹, Nana Nino Tatishvili¹³, Maia Beridze⁹, Samson G Khachatryan⁶, Gia Melikishvili⁷, John Hardy²⁴, Reza Maroofian²⁴, Henry Houlden²⁴

Affiliations

¹ Department of Neurology, South Kazakhstan Medical Academy, Shymkent, Kazakhstan. rauan.kaiyrzhanov.14@ucl.ac.uk.
² Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. rauan.kaiyrzhanov.14@ucl.ac.uk.
³ Department of Neurology, South Kazakhstan Medical Academy, Shymkent, Kazakhstan.
⁴ MediClub Hospital, Baku, Azerbaijan.
⁵ Department of Neurology, Avicenna Tajik State Medical University, Dushanbe, Tajikistan.
⁶ Department of Neurology and Neurosurgery, National Institute of Health, Yerevan, Armenia.
⁷ MediClub Georgia Medical Center, Tbilisi, Georgia.
⁸ Fetal-Neonatal Neuroimaging & Developmental Science Center, Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.
⁹ Department of Neurology, Tbilisi State Medical University, Tbilisi, Georgia.
¹⁰ Department of Neurology and Epilepsy, Arabkir Medical Complex, Yerevan, Armenia.
¹¹ Department of Neurology, Yerevan State Medical University, Yerevan, Armenia.
¹² Neurology Department, Hb Guven Clinic, Baku, Azerbaijan.
¹³ Neuroscience Department, M.Iashvili Central Children's Hospital, Tbilisi, Georgia.
¹⁴ Faculty of Medicine, Khoja Akhmet Yassawi International Kazakh-Turkish University, Turkestan, Kazakhstan.
¹⁵ Department of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, Kazakhstan.
¹⁶ Neurolab clinic, Almaty, Kazakhstan.
¹⁷ Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
¹⁸ Department of Neurology, Astana Medical University, Astana, Kazakhstan.
¹⁹ Department of Neurology of Early Age, National Research Center for Maternal and Child Health, Astana, Kazakhstan.
²⁰ Children Neurology Hospital, Baku, Azerbaijan.
²¹ Neurology Department, Azerbaijan Medical University, Baku, Azerbaijan.
²² Republican Pediatric Center, Baku, Azerbaijan.
²³ Neuron Medical Center, Baku, Azerbaijan.
²⁴ Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
²⁵ Neurobiology and Medical Genetics Laboratory, "Nicolae Testemitanu" State University of Medicine and Pharmacy, Chisinau, Republic of Moldova.
²⁶ Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
²⁷ Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.
²⁸ Department of Paediatrics, Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, Georgia.
²⁹ Shashkin Clinic, Almaty, Kazakhstan.

PMID: 39578646
DOI: 10.1038/s41588-024-02016-x

Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia

Rauan Kaiyrzhanov et al. Nat Genet. 2024 Dec.

. 2024 Dec;56(12):2582-2584.

doi: 10.1038/s41588-024-02016-x.

Authors

Affiliations

¹ Department of Neurology, South Kazakhstan Medical Academy, Shymkent, Kazakhstan. rauan.kaiyrzhanov.14@ucl.ac.uk.
² Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. rauan.kaiyrzhanov.14@ucl.ac.uk.
³ Department of Neurology, South Kazakhstan Medical Academy, Shymkent, Kazakhstan.
⁴ MediClub Hospital, Baku, Azerbaijan.
⁵ Department of Neurology, Avicenna Tajik State Medical University, Dushanbe, Tajikistan.
⁶ Department of Neurology and Neurosurgery, National Institute of Health, Yerevan, Armenia.
⁷ MediClub Georgia Medical Center, Tbilisi, Georgia.
⁸ Fetal-Neonatal Neuroimaging & Developmental Science Center, Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.
⁹ Department of Neurology, Tbilisi State Medical University, Tbilisi, Georgia.
¹⁰ Department of Neurology and Epilepsy, Arabkir Medical Complex, Yerevan, Armenia.
¹¹ Department of Neurology, Yerevan State Medical University, Yerevan, Armenia.
¹² Neurology Department, Hb Guven Clinic, Baku, Azerbaijan.
¹³ Neuroscience Department, M.Iashvili Central Children's Hospital, Tbilisi, Georgia.
¹⁴ Faculty of Medicine, Khoja Akhmet Yassawi International Kazakh-Turkish University, Turkestan, Kazakhstan.
¹⁵ Department of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, Kazakhstan.
¹⁶ Neurolab clinic, Almaty, Kazakhstan.
¹⁷ Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
¹⁸ Department of Neurology, Astana Medical University, Astana, Kazakhstan.
¹⁹ Department of Neurology of Early Age, National Research Center for Maternal and Child Health, Astana, Kazakhstan.
²⁰ Children Neurology Hospital, Baku, Azerbaijan.
²¹ Neurology Department, Azerbaijan Medical University, Baku, Azerbaijan.
²² Republican Pediatric Center, Baku, Azerbaijan.
²³ Neuron Medical Center, Baku, Azerbaijan.
²⁴ Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
²⁵ Neurobiology and Medical Genetics Laboratory, "Nicolae Testemitanu" State University of Medicine and Pharmacy, Chisinau, Republic of Moldova.
²⁶ Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
²⁷ Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.
²⁸ Department of Paediatrics, Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, Georgia.
²⁹ Shashkin Clinic, Almaty, Kazakhstan.

PMID: 39578646
DOI: 10.1038/s41588-024-02016-x

No abstract available

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Conflict of interest statement

Competing interests: The authors have no competing interests.

References

1. Martínez-Cruz, B. et al. Eur. J. Hum. Genet. 19, 216–223 (2011). - DOI - PubMed
1. Comas, D. et al. Am. J. Hum. Genet. 63, 1824–1838 (1998). - DOI - PubMed - PMC
1. Kaiyrzhanov, R. Defining the Genetic Causes of Rare Paediatric Neurological Diseases in Central Asian and Transcaucasian Populations. PhD thesis, University College London (2023).
1. Lancet Neurol. 21, 203 (2022).
1. Kaiyrzhanov, R. et al. Brain 147, 1436–1456 (2024). - DOI - PubMed

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Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia

Affiliations

Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia

Authors

Affiliations

Conflict of interest statement

References

Publication types

LinkOut - more resources

Full Text Sources