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Items: 1 to 20 of 60

1.
DCX variants in two unrelated Chinese families with subcortical band heterotopia: Two case reports and review of literature
Chunlai Gao, Ning Liu, Jian Ma, Jianshe Zhao, Bing Zhao, Fengling Song, Rui Dong, Zilong Li, Yuqiang Lv, Yi Liu, Zhongtao Gai
Heliyon. 2023 Nov; 9(11): e22323. Published online 2023 Nov 14. doi: 10.1016/j.heliyon.2023.e22323
PMCID:
PMC10692899
AbstractArticlePDF–2.8M
2.
Double cortex syndrome (subcortical band heterotopia): A case report
Faiza Afzal, Shehroze Tabassum, Aroma Naeem, Farhan Naeem, Rana Uzair Ahmad
Radiol Case Rep. 2023 Feb; 18(2): 671–674. Published online 2022 Dec 5. doi: 10.1016/j.radcr.2022.11.021
PMCID:
PMC9723648
AbstractArticlePDF–815K
3.
Incremental changes in interhemispheric functional connectivity after two-stage corpus callosotomy in a patient with subcortical band heterotopia
Ako Matsuhashi, Takeshi Matsuo, Satoko Kumada
Epilepsy Behav Rep. 2022; 18: 100525. Published online 2022 Jan 22. doi: 10.1016/j.ebr.2022.100525
PMCID:
PMC8818921
AbstractArticlePDF–1.4M
4.
Case Report: PAFAH1B1 Mutation and Posterior Band Heterotopia With Focal Temporal Lobe Epilepsy Treated by Responsive Neurostimulation
Frank G. Gilliam, Paddy Ssentongo, Michael Sather, Yuka I. Kawasawa
Front Neurol. 2021; 12: 779113. Published online 2021 Nov 18. doi: 10.3389/fneur.2021.779113
PMCID:
PMC8636682
AbstractArticlePDF–556K
5.
Subcortical Band Heterotopia Presented With Refractory Epilepsy and Reversible Aphasia
Reaz Mahmud
Cureus. 2021 Aug; 13(8): e16990. Published online 2021 Aug 8. doi: 10.7759/cureus.16990
PMCID:
PMC8422252
AbstractArticlePDF–604K
6.
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum
Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, Stefano Giuseppe Caraffi, Roberta Zuntini, Simonetta Rosato, Marzia Pollazzon, Alessandra Terracciano, Manuela Napoli, Susanna Rizzi, Grazia Gabriella Salerno, Francesca Clementina Radio, Marcello Niceta, Elena Parrini, Carlo Fusco, Giancarlo Gargano, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Orsetta Zuffardi, Livia Garavelli
Genes (Basel) 2021 Aug; 12(8): 1208. Published online 2021 Aug 5. doi: 10.3390/genes12081208
PMCID:
PMC8391275
AbstractArticlePDF–896K
7.
Size of Subcortical Band Heterotopia Influences the Susceptibility to Hyperthermia-Induced Seizures in a Rat Model
Kalliopi Moustaki, Emmanuelle Buhler, Robert Martinez, Françoise Watrin, Alfonso Represa, Jean-Bernard Manent
Front Cell Neurosci. 2019; 13: 473. Published online 2019 Oct 18. doi: 10.3389/fncel.2019.00473
PMCID:
PMC6813413
AbstractArticlePDF–3.7M
8.
Prenatal and postnatal evaluation of polymicrogyria with band heterotopia
Usha D. Nagaraj, Robert Hopkin, Mark Schapiro, Beth Kline-Fath
Radiol Case Rep. 2017 Sep; 12(3): 602–605. Published online 2017 May 27. doi: 10.1016/j.radcr.2017.04.007
PMCID:
PMC5551996
AbstractArticlePDF–576K
9.
Advanced structural multimodal imaging of a patient with subcortical band heterotopia
Lohith G. Kini, Ilya M. Nasrallah, Carlos Coto, Lindsay C. Ferraro, Kathryn A. Davis
Epilepsia Open. 2016 Dec; 1(3-4): 152–155. Published online 2016 Oct 3. doi: 10.1002/epi4.12019
PMCID:
PMC5387998
AbstractArticlePDF–269K
10.
Double Cortex Syndrome (Subcortical Band Heterotopia): A Case Report
Ali Akbar Momen, Mehdi Momen
Iran J Child Neurol. 2015 Spring; 9(2): 64–68.
PMCID:
PMC4515345
AbstractArticlePDF–1.6M
11.
‘Double cortex’ sign on FDG-PET/CT in diffuse band heterotopia
Madhavi Tripathi, Manjari Tripathi, Ganesh Kumar, Arun Malhotra, Chandra Sekhar Bal
Indian J Nucl Med. 2013 Oct-Dec; 28(4): 249–250. doi: 10.4103/0972-3919.121979
PMCID:
PMC3866676
AbstractArticlePDF–1015K
12.
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia
Eden V Haverfield, Amanda J Whited, Kristin S Petras, William B Dobyns, Soma Das
Eur J Hum Genet. 2009 Jul; 17(7): 911–918. Published online 2008 Dec 3. doi: 10.1038/ejhg.2008.213
PMCID:
PMC2986498
AbstractArticlePDF–135K
13.
A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia
Myeong-Kyu Kim, Man-Seok Park, Byeong-Chae Kim, Ki-Hyun Cho, Young-Seon Kim, Jin-Hee Kim, Min-Cheol Lee, Tag Heo, Eun-Young Kim
J Korean Med Sci. 2005 Aug; 20(4): 670–673. Published online 2005 Aug 31. doi: 10.3346/jkms.2005.20.4.670
PMCID:
PMC2782167
AbstractArticlePDF–117K
14.
Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations
Meng-Han Tsai, Hao-Chen Ke, Wan-Cian Lin, Fang-Shin Nian, Chia-Wei Huang, Haw-Yuan Cheng, Chi-Sin Hsu, Tiziana Granata, Chien-Hui Chang, Barbara Castellotti, Shin-Yi Lin, Fabio M. Doniselli, Cheng-Ju Lu, Silvana Franceschetti, Francesca Ragona, Pei-Shan Hou, Laura Canafoglia, Chien-Yi Tung, Mei-Hsuan Lee, Won-Jing Wang, Jin-Wu Tsai
Acta Neuropathol. 2024; 147(1): 13. Published online 2024 Jan 9. doi: 10.1007/s00401-023-02665-y
PMCID:
PMC10776482
AbstractArticlePDF–11M
15.
Lissencephaly with Congenital Hypothyroidism: A Case Report
Shambhu Kumar Sahani, Anil Pathak, Bishal Nepali, Nilshan Rai
JNMA J Nepal Med Assoc. 2022 Nov; 60(255): 978–981. Published online 2022 Nov 30. doi: 10.31729/jnma.7893
PMCID:
PMC9795095
AbstractArticlePDF–574K
16.
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies
Julian Schröter, Bernt Popp, Heiko Brennenstuhl, Jan H. Döring, Stephany H. Donze, Emilia K. Bijlsma, Arie van Haeringen, Dagmar Huhle, Leonie Jestaedt, Andreas Merkenschlager, Maria Arelin, Daniel Gräfe, Sonja Neuser, Stephanie Oates, Deb K. Pal, Michael J. Parker, Johannes R. Lemke, Georg F. Hoffmann, Stefan Kölker, Inga Harting, Steffen Syrbe
Eur J Hum Genet. 2022 Mar; 30(3): 298–306. Published online 2022 Jan 11. doi: 10.1038/s41431-021-01027-0
PMCID:
PMC8904761
AbstractArticlePDF–2.3M
17.
Doublecortin facilitates the elongation of the somatic Golgi apparatus into proximal dendrites
Peijun Li, Luyao Li, Binyuan Yu, Xinye Wang, Qi Wang, Jingjing Lin, Yihui Zheng, Jinjin Zhu, Minzhi He, Zhaonan Xia, Mengjing Tu, Judy S. Liu, Zhenlang Lin, Xiaoqin Fu
Mol Biol Cell. 2021 Mar 1; 32(5): 422–434. doi: 10.1091/mbc.E19-09-0530
PMCID:
PMC8098852
AbstractArticlePDF–2.0M
18.
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly
Meng-Han Tsai, Alison M. Muir, Won-Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao, Mei-Feng Wu, Ying-Chao Chang, Brenda E. Porter, Laura A. Jansen, Guillaume Sebire, Nicolas Deconinck, Wen-Lang Fan, Shih-Chi Su, Wen-Hung Chung, Edith P. Almanza Fuerte, Michele G. Mehaffey, University of Washington Center for Mendelian Genomics, Ching-Ching Ng, Chung-Kin Chan, Kheng-Seang Lim, Richard J. Leventer, Paul J. Lockhart, Kate Riney, John A. Damiano, Michael S. Hildebrand, Ghayda M. Mirzaa, William B. Dobyns, Samuel F. Berkovic, Ingrid E. Scheffer, Jin-Wu Tsai, Heather C. Mefford
Neuron. Author manuscript; available in PMC 2021 Apr 22.
Published in final edited form as: Neuron. 2020 Apr 22; 106(2): 237–245.e8. Published online 2020 Feb 24. doi: 10.1016/j.neuron.2020.01.027
PMCID:
PMC7357395
AbstractArticlePDF–1.1M
19.
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders
Tadahiro Mitani, Jaya Punetha, Ibrahim Akalin, Davut Pehlivan, Mateusz Dawidziuk, Zeynep Coban Akdemir, Sarenur Yilmaz, Ezgi Aslan, Jill V. Hunter, Hadia Hijazi, Christopher M. Grochowski, Shalini N. Jhangiani, Ender Karaca, Jawid M. Fatih, Piotr Iwanowski, Tomasz Gambin, Pawel Wlasienko, Alicja Goszczanska-Ciuchta, Monika Bekiesinska-Figatowska, Masoumeh Hosseini, Sanaz Arzhangi, Hossein Najmabadi, Jill A. Rosenfeld, Haowei Du, Dana Marafi, Susan Blaser, Ronni Teitelbaum, Rachel Silver, Baylor-Hopkins Center for Mendelian Genomics, Jennifer E. Posey, Hans-Hilger Ropers, Richard A. Gibbs, Wojciech Wiszniewski, James R. Lupski, David Chitayat, Kimia Kahrizi, Pawel Gawlinski
Am J Hum Genet. 2019 Nov 7; 105(5): 1005–1015. Published online 2019 Oct 17. doi: 10.1016/j.ajhg.2019.09.017
PMCID:
PMC6848995
AbstractArticlePDF–2.3M
20.
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay
Sangmoon Lee, Dillon Y. Chen, Maha S. Zaki, Reza Maroofian, Henry Houlden, Nataliya Di Donato, Dalia Abdin, Heba Morsy, Ghayda M. Mirzaa, William B. Dobyns, Jennifer McEvoy-Venneri, Valentina Stanley, Kiely N. James, Grazia M.S. Mancini, Rachel Schot, Tugba Kalayci, Umut Altunoglu, Ehsan Ghayoor Karimiani, Lauren Brick, Mariya Kozenko, Yalda Jamshidi, M. Chiara Manzini, Mehran Beiraghi Toosi, Joseph G. Gleeson
Am J Hum Genet. 2019 Oct 3; 105(4): 844–853. Published online 2019 Oct 3. doi: 10.1016/j.ajhg.2019.08.013
PMCID:
PMC6817548
AbstractArticlePDF–1.7M

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