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Select item 79183091.

Preliminary report for Epilepsia Open A case of West syndrome with severe global developmental delay and confirmed KIF5A gene variant

Masataka Fukuoka, Shin Okazaki, Kiyohiro Kim, Megumi Nukui, Takeshi Inoue, Ichiro Kuki, Hisashi Kawawaki, Mitsuko Nakashima, Naomichi Matsumoto

Epilepsia Open. 2021 Mar; 6(1): 230–234. Published online 2021 Jan 7. doi: 10.1002/epi4.12431

PMCID:: PMC7918309

Abstract Article PDF–832K

Select item 64353152.

Non‐pharmaceutical management of respiratory morbidity in children with severe global developmental delay

Cochrane Database Syst Rev. 2014 Oct; 2014(10): CD010382. Published online 2014 Oct 19. doi: 10.1002/14651858.CD010382.pub2

PMCID:: PMC6435315

Abstract Article PDF–641K

Select item 57870543.

Iliyana Hristova Pacheva, Tihomir Todorov, Ivan Ivanov, Desislava Tartova, Katerina Gaberova, Albena Todorova, Diana Dimitrova

Front Pediatr. 2018; 6: 1. Published online 2018 Jan 23. doi: 10.3389/fped.2018.00001

PMCID:: PMC5787054

Abstract Article PDF–486K

Select item 48756374.

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

Matthias Kettwig, Orly Elpeleg, Eike Wegener, Steffi Dreha-Kulaczewski, Marco Henneke, Jutta Gärtner, Peter Huppke

BMC Neurol. 2016; 16: 74. Published online 2016 May 21. doi: 10.1186/s12883-016-0602-7

PMCID:: PMC4875637

Abstract Article PDF–3.5M

Select item 43225615.

Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease

Narjes Armanet, Corinne Metay, Sophie Brisset, Georges Deschenes, Dominique Pineau, François M Petit, Federico Di Rocco, Michel Goossens, Gérard Tachdjian, Philippe Labrune, Lucie Tosca

Mol Cytogenet. 2015; 8: 8. Published online 2015 Feb 1. doi: 10.1186/s13039-015-0107-x

PMCID:: PMC4322561

Abstract Article PDF–2.4M

Select item 36278236.

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

Amelia M. Lindgren, Tatiana Hoyos, Michael E. Talkowski, Carrie Hanscom, Ian Blumenthal, Colby Chiang, Carl Ernst, Shahrin Pereira, Zehra Ordulu, Carol Clericuzio, Joanne M. Drautz, Jill A. Rosenfeld, Lisa G. Shaffer, Lea Velsher, Tania Pynn, Joris Vermeesch, David J. Harris, James F. Gusella, Eric C. Liao, Cynthia C. Morton

Hum Genet. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: Hum Genet. 2013 May; 132(5): 537–552. Published online 2013 Jan 25. doi: 10.1007/s00439-013-1263-x

PMCID:: PMC3627823

Abstract Article PDF–1.7M

Select item 17629687.

Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?

A Megarbane, R Choueiri, J Bleik, M Mezzina, C Caillaud

J Med Genet. 1999 Aug; 36(8): 637–640.

PMCID:: PMC1762968

Summary PDF–113K

Select item 10496038.

Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms: a new recessive syndrome?

G Wolff, E Zimmermann, B Zimmerhackl, C Harnasch, C Jung, E Back

J Med Genet. 1994 Jan; 31(1): 65–67. doi: 10.1136/jmg.31.1.65

PMCID:: PMC1049603

Summary Page Browse PDF–807K

Select item 110431739.

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

Charlotte Herbst, Viktoria Bothe, Meret Wegler, Susanne Axer-Schaefer, Séverine Audebert-Bellanger, Jozef Gecz, Benjamin Cogne, Hagit Baris Feldman, Anselm H. C. Horn, Anna C. E. Hurst, Melissa A. Kelly, Michael C. Kruer, Alina Kurolap, Annie Laquerriere, Megan Li, Paul R. Mark, Markus Morawski, Mathilde Nizon, Tomi Pastinen, Tilman Polster, Pascale Saugier-Veber, Jang SeSong, Heinrich Sticht, Jens T. Stieler, Isabelle Thifffault, Clare L. van Eyk, Pascale Marcorelles, Myriam Vezain-Mouchard, Rami Abou Jamra, Henry Oppermann

Hum Genet. 2024; 143(3): 455–469. Published online 2024 Mar 25. doi: 10.1007/s00439-024-02655-4

PMCID:: PMC11043173

Abstract Article PDF–3.4M

Select item 1099453310.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian

Brain. 2024 Apr; 147(4): 1436–1456. Published online 2023 Nov 10. doi: 10.1093/brain/awad380

PMCID:: PMC10994533

Abstract Article PDF–2.1M

Select item 1042350911.

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, Fatima Rahman, Maha S Zaki, Shazia Maqbool, Najwa Anwa, Victor L Ruiz-Pérez, Shira Yanovsky-Dagan, Orly Elpeleg, Sniya Sudhakar, Kshitij Mankad, Tamar Harel, Henry Houlden

J Med Genet. 2023 Aug; 60(8): 791–796. Published online 2022 Dec 29. doi: 10.1136/jmg-2022-108566

PMCID:: PMC10423509

Abstract Article PDF–739K

Select item 1040054512.

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

Henrike L. Sczakiel, Max Zhao, Brigitte Wollert-Wulf, Magdalena Danyel, Nadja Ehmke, Corinna Stoltenburg, Nadirah Damseh, Motee Al-Ashhab, Tugce B. Balci, Matthew Osmond, Andrea Andrade, Jens Schallner, Joseph Porrmann, Kimberly McDonald, Mingjuan Liao, Henry Oppermann, Konrad Platzer, Nadine Dierksen, Majid Mojarrad, Atieh Eslahi, Behnaz Bakaeean, Daniel G. Calame, James R. Lupski, Zahra Firoozfar, Seyed Mohammad Seyedhassani, Seyed Ahmad Mohammadi, Najwa Anwaar, Fatima Rahman, Dominik Seelow, Martin Janz, Denise Horn, Reza Maroofian, Felix Boschann

Eur J Hum Genet. 2023 Aug; 31(8): 905–917. Published online 2023 May 15. doi: 10.1038/s41431-023-01382-0

PMCID:: PMC10400545

Abstract Article PDF–3.1M

Select item 1039893113.

Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation

Sara A. Lewis, Sheetal Shetty, Sean Gamble, Jennifer Heim, Ningning Zhao, Gideon Stitt, Matthew Pankratz, Tara Mangum, Iris Marku, Robert B. Rosenberg, Angus A. Wilfong, Michael C. Fahey, Sukhan Kim, Scott J. Myers, Brian Appavu, Michael C. Kruer

Orphanet J Rare Dis. 2023; 18: 225. Published online 2023 Aug 3. doi: 10.1186/s13023-023-02756-9

PMCID:: PMC10398931

Abstract Article PDF–1.4M

Select item 1031969114.

RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication

Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian

Neurogenetics. 2023; 24(3): 201–208. Published online 2023 Jun 8. doi: 10.1007/s10048-023-00722-y

Retraction in:: Neurogenetics. 2024; 25(1): 49.

PMCID:: PMC10319691

Abstract Article

Select item 1029960915.

Delayed Biotin Therapy in a Child with Atypical Profound Biotinidase Deficiency: Late Arrival of the Truth and a Lesson Worth Thinking

Shu Liu, Ye Zhang, Zhi Deng, Hui He, Xianhua Zheng, Qingshan Hong, Xianqiong Luo

Int J Mol Sci. 2023 Jun; 24(12): 10239. Published online 2023 Jun 16. doi: 10.3390/ijms241210239

PMCID:: PMC10299609

Abstract Article PDF–4.1M

Select item 1010169216.

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders

Samantha J. Bryen, Katharine Zhang, Gregory Dziaduch, Shobhana Bommireddipalli, Take Naseri, Muagututi’a Sefuiva Reupena, Satupa’itea Viali, Ryan L. Minster, Leigh B. Waddell, Amanda Charlton, Gina L. O’Grady, Frances J. Evesson, Sandra T. Cooper

Clin Genet. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Clin Genet. 2023 May; 103(5): 553–559. Published online 2023 Feb 27. doi: 10.1111/cge.14311

PMCID:: PMC10101692

Abstract Article PDF–1.5M

Select item 963088417.

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

Chiara Klöckner, J Pedro Fernández-Murray, Mahtab Tavasoli, Heinrich Sticht, Gisela Stoltenburg-Didinger, Leila Motlagh Scholle, Somayeh Bakhtiari, Michael C Kruer, Hossein Darvish, Saghar Ghasemi Firouzabadi, Alex Pagnozzi, Anju Shukla, Katta Mohan Girisha, Dhanya Lakshmi Narayanan, Parneet Kaur, Reza Maroofian, Maha S Zaki, Mahmoud M Noureldeen, Andreas Merkenschlager, Janina Gburek-Augustat, Elisa Cali, Selina Banu, Kamrun Nahar, Stephanie Efthymiou, Henry Houlden, Rami Abou Jamra, Jason Williams, Christopher R McMaster, Konrad Platzer

Brain. 2022 Jun; 145(6): 1916–1923. Published online 2022 Feb 24. doi: 10.1093/brain/awac074

PMCID:: PMC9630884

Abstract Article PDF–1.6M

Select item 954527418.

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3

Daniel Halperin, Nadav Agam, Maher Hallak, Miora Feinstein, Max Drabkin, Yuval Yogev, Ohad Wormser, Eitan Shavit, Libe Gradstein, Ilan Shelef, Aanalia Mijalovsky, Hagit Flusser, Ohad S. Birk

Clin Genet. 2022 Aug; 102(2): 123–129. Published online 2022 May 5. doi: 10.1111/cge.14143

PMCID:: PMC9545274

Abstract Article PDF–1.4M

Select item 894399919.

Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing

Qi Yang, Zailong Qin, Qinle Zhang, Shang Yi, Sheng Yi, Jingsi Luo

BMC Med Genomics. 2022; 15: 67. Published online 2022 Mar 23. doi: 10.1186/s12920-022-01217-9

PMCID:: PMC8943999

Abstract Article PDF–1.1M

Select item 853593620.

Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions

Hildegard Kehrer-Sawatzki, Ute Wahlländer, David N. Cooper, Victor-Felix Mautner

Genes (Basel) 2021 Oct; 12(10): 1639. Published online 2021 Oct 19. doi: 10.3390/genes12101639

PMCID:: PMC8535936

Abstract Article PDF–769K

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