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Select item 105690591.

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl Inositol deficiency due to a PIGM promoter mutation

Ben Pode-Shakked, Gali Heimer, Thierry Vilboux, Dina Marek-Yagel, Bruria Ben-Zeev, Mariska Davids, Carlos R. Ferreira, Amit Mary Philosoph, Alvit Veber, Naomi Pode-Shakked, Gili Kenet, Michalle Soudack, Chen Hoffmann, Helly Vernitsky, Marina Safaniev, Maya Lodzki, Avishay Lahad, Dror S. Shouval, Dana Levinkopf, Batia Weiss, Assaf Arie Barg, Ayman Daka, Ninette Amariglio, May Christine V. Malicdan, William A. Gahl, Yair Anikster

Mol Genet Metab. Author manuscript; available in PMC 2023 Oct 12.

Published in final edited form as: Mol Genet Metab. 2019 Sep-Oct; 128(1-2): 151–161. Published online 2019 Aug 14. doi: 10.1016/j.ymgme.2019.08.003

PMCID:: PMC10569059

Abstract Article PDF–2.0M

Select item 92338102.

Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome

Elizabeth Rosenfeld, Ravi Prakash Reddy Nanga, Alfredo Lucas, Andrew Y. Revell, Allison Thomas, Nina H. Thomas, David R. Roalf, Russel T. Shinohara, Ravinder Reddy, Kathryn A. Davis, Diva D. De León

Orphanet J Rare Dis. 2022; 17: 248. Published online 2022 Jun 25. doi: 10.1186/s13023-022-02398-3

Correction in:: Orphanet J Rare Dis. 2022; 17: 315.

PMCID:: PMC9233810

Abstract Article PDF–1.3M

Select item 86412043.

Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report

Yang Tian, Zhen Shi, Chi Hou, Wenjuan Li, Xiuying Wang, Haixia Zhu, Xiaojing Li, Wen-Xiong Chen

BMC Pediatr. 2021; 21: 546. Published online 2021 Dec 3. doi: 10.1186/s12887-021-03021-3

PMCID:: PMC8641204

Abstract Article PDF–1.4M

Select item 70997664.

Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)

Xianru Jiao, Jiao Xue, Pan Gong, Xinhua Bao, Ye Wu, Yuehua Zhang, Yuwu Jiang, Zhixian Yang

Orphanet J Rare Dis. 2020; 15: 78. Published online 2020 Mar 27. doi: 10.1186/s13023-020-01365-0

PMCID:: PMC7099766

Abstract Article PDF–564K

Select item 66883565.

Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression

Andres Jimenez-Gomez, Sizhe Niu, Fabiola Andujar-Perez, Elizabeth A. McQuade, Alfred Balasa, David Huss, Rohini Coorg, Michael Quach, Sherry Vinson, Sarah Risen, J. Lloyd Holder, Jr

J Neurodev Disord. 2019; 11: 18. Published online 2019 Aug 8. doi: 10.1186/s11689-019-9276-y

PMCID:: PMC6688356

Abstract Article PDF–2.7M

Select item 60212186.

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

Nicolas Chatron, Rikke S. Møller, Neena L. Champaigne, Amy L. Schneider MGenCouns, Alma Kuechler, Audrey Labalme, Thomas Simonet, Lauren Baggett, Claire Bardel, Erik-Jan Kamsteeg, Rolph Pfundt, Corrado Romano, Johan Aronsson, Antonino Alberti, Mirella Vinci, Maria J. Miranda, Amy Lacroix, Dragan Marjanovic, Vincent des Portes, Patrick Edery, Dagmar Wieczorek, Elena Gardella, Ingrid E. Scheffer, Heather Mefford, Damien Sanlaville, Gemma L. Carvill, Gaetan Lesca

Ann Neurol. Author manuscript; available in PMC 2019 May 1.

Published in final edited form as: Ann Neurol. 2018 May; 83(5): 926–934. Published online 2018 Apr 30. doi: 10.1002/ana.25222

PMCID:: PMC6021218

Abstract Article PDF–1.5M

Select item 55478847.

The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss of function mutations

J. Lloyd Holder, Jr., Michael M. Quach

Epilepsia. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Epilepsia. 2016 Oct; 57(10): 1651–1659. Published online 2016 Aug 24. doi: 10.1111/epi.13506

PMCID:: PMC5547884

Abstract Article PDF–453K

Select item 36653468.

The ketogenic diet has no effect on the expression of spike-and-wave discharges and nutrient transporters in Genetic Absence Epilepsy Rats from Strasbourg (GAERS)

Astrid Nehlig, Franck Dufour, Marianne Klinger, Lisa B. Willing, Ian A. Simpson, Susan J. Vannucci

J Neurochem. Author manuscript; available in PMC 2013 May 28.

Published in final edited form as: J Neurochem. 2009 May; 109(0 1): 207–213. doi: 10.1111/j.1471-4159.2009.05938.x

PMCID:: PMC3665346

Abstract Article PDF–614K

Select item 93141149.

Stiripentol inhibits spike‐and‐wave discharges in animal models of absence seizures: A new mechanism of action involving T‐type calcium channels

Veronique Riban, Isabelle Heulard, Lucie Reversat, Hakim Si Hocine, Marc Verleye

Epilepsia. 2022 May; 63(5): 1200–1210. Published online 2022 Mar 9. doi: 10.1111/epi.17201

PMCID:: PMC9314114

Abstract Article PDF–3.1M

Select item 921898610.

Clinical analysis of CHD2 gene mutations in pediatric patients with epilepsy

Weixing Feng, Fang Fang, Xiaohui Wang, Chunhong Chen, Junlan Lu, Jie Deng

Pediatr Investig. 2022 Jun; 6(2): 93–99. Published online 2022 Apr 26. doi: 10.1002/ped4.12321

PMCID:: PMC9218986

Abstract Article PDF–210K

Select item 909620911.

Non-convulsive Status Epilepticus in SEMA6B-Related Progressive Myoclonic Epilepsy: A Case Report With Literature Review

Jing Duan, Yan Chen, Zhanqi Hu, Yuanzhen Ye, Tian Zhang, Cong Li, Qi Zeng, Xia Zhao, Jiahui Mai, Yang Sun, Chao Liu, Wenxin Zheng, Yuhan Xiao, Jianxiang Liao, Li Chen

Front Pediatr. 2022; 10: 859183. Published online 2022 Apr 28. doi: 10.3389/fped.2022.859183

PMCID:: PMC9096209

Abstract Article PDF–2.4M

Select item 866621712.

Efficacy of Lacosamide in a Patient with Refractory Generalized Epilepsy Based on Video Electroencephalography

Hidetada Yamada, Shuichiro Neshige, Takeo Shishido, Hiroki Ueno, Tomohiko Ohshita, Hiroyuki Morino, Hirofumi Maruyama

Intern Med. 2021 Nov 15; 60(22): 3621–3624. Published online 2021 May 29. doi: 10.2169/internalmedicine.7295-21

PMCID:: PMC8666217

Abstract Article PDF–2.7M

Select item 819311913.

Phenotypes of GNAO1 Variants in a Chinese Cohort

Xiaoling Yang, Xueyang Niu, Ying Yang, Miaomiao Cheng, Jing Zhang, Jiaoyang Chen, Zhixian Yang, Yuehua Zhang

Front Neurol. 2021; 12: 662162. Published online 2021 May 28. doi: 10.3389/fneur.2021.662162

PMCID:: PMC8193119

Abstract Article PDF–2.2M

Select item 807557314.

Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder

Kenneth A. Myers, Carla Marini, Gemma L. Carvill, Amy McTague, Julie Panetta, Chloe Stutterd, Thorsten Stanley, Samantha Marin, John Nguyen, Carmen Barba, Anna Rosati, Richard H. Scott, Heather C. Mefford, Renzo Guerrini, Ingrid E. Scheffer

Neurol Genet. 2021 Apr; 7(2): e579. Published online 2021 Mar 18. doi: 10.1212/NXG.0000000000000579