Seizure arising from ventral motor cortex and <i>DEPDC5</i> gene mutation _Journal of Epilepsy

Authors：

 HU Xiangshu , FEI Lingxia , LI Kaihui , LI Danfang , OU Yangmei , LI Hua , CHEN Junxi , ZHANG Wei , GUO qiang

Epileptic center, Guangdong 999 Brain Hospital, Guangzhou, 510520 China;

Corresponding?author：

HU Xiangshu, Email: hxs75@126.com

Keywords：

DEPDC5 mutation; Ventral motor cortex; Seizure semiology; Focal cortical dysplasia

DOI：

10.7507/2096-0247.20180050

Video：

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ObjectiveWe report a special case to explain seizure semiology and epileptogenic network of seizure arising from ventral motor cortex, and to explore Focal cortical dycplasia (FCD) features on MR of epileptic patients with DEPDC5 mutation.MethodsA drug-resistant focal epilepsy patient with DEPDC5 mutation was underwent a detailed presurgical evaluation. The epileptogenic area(EA) was localized with SEEG and removed later by surgery. Related literatures were thoroughly reviewed.ResultsSubtle FCD of ventral branch of inferior precentral sulcus(IPv) on MR(1.5T) was noticed. With SEEG recording, seizure onset zone was detected on IPv with the probable lesion, early spreading to anterior insula, central operculum and ventral precentral gyrus. According to the architectures of ventral motor trend, seizure semiology with evolution from contralateral dystonia to ipsilateral chorea movement could be better comprehended. Seizure was controlled after totally resection on the sites of IPv, anterior insula, and central operculum. Pathological change was FCD type I. Other literatures reported that DEPDC5 mutation related FCD may be located in motor system, and seizure onset could also be in anterior insula cortex besides motor cortex in other SEEG cases.ConclusionsEarly contralateral dystonia and chorea movement could be definite figures of seizure arising from inferior precentral sulcus; DEPDC5 mutation maybe a clue to find subtle FCD in motor cortex.

Citation： HU Xiangshu, FEI Lingxia, LI Kaihui, LI Danfang, OU Yangmei, LI Hua, CHEN Junxi, ZHANG Wei, GUO qiang. Seizure arising from ventral motor cortex and DEPDC5 gene mutation . Journal of Epilepsy, 2018, 4(4): 306-313. doi: 10.7507/2096-0247.20180050 Copy

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6.	Stephanie B. Genetic advances in autosomal dominant focal epilepsies: focus on DEPDC5. Prog Brian Res, 2014, 213: 123-139.
7.	Baldassari S, Licchetta L, Tinuper P, et al. GATOR1 complex: the common genetic actor in focal epilepsies. J Med Genet, 2016, 53(8): 503-510.
8.	Dibbens LM, de Vries B, Donatello S, et al. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet, 2013, 45(5): 546-551.
9.	Baulac S, Ishida S, Marsan E, et al. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann Neurol, 2015, 77(4): 675-683.
10.	Scheffer IE, Heron SE, Regan BM, et al. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol, 2014, 75(5): 782-787.
11.	Scerri T, Riseley JR, Gillies G, et al. Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. Ann Clin Transl Neurol, 2015; 2(5): 575-580.
12.	桑林, 胡文瀚, 劉暢, 等. DEPDC5 基因突變相關局灶性皮質發育不良并發癲癇手術治療 1 例并文獻復習. 疑難病雜志, 2017, 16(2): 141-143.
13.	歐陽梅, 李花, 等. DEPDC5 基因突變的遺傳性局灶性癲癇的臨床研究.癲癇雜志, 2018, 4(3): 192-200.

1. Rusu V, Chassoux F, Landre E, et al. Dystonic posturing in seizures of mesial temporal origin. Neurology, 2005, 65(10): 1612-1619.
2. Morecraft RJ, Stilwell-Morecraft KS, Ge J, et al. Cytoarchitecture and Cortical Connections of the Anterior Insula and Adjacent Frontal Motor Fields in the Rhesus Monkey. Brain Res Bull, 2015, 119(Pt A): 52-72.
3. Pandya D, Petrides M, et al. Cerebral cortex: Architecture, Connections, and the Dual Origin Concept. Oxford University Press 2015: P156.
4. Amuts k, Schleicher A, Burgel U, et al. Broca’s region revisited: cytoarchitecture and intersubject variability. J Comp Neurol, 1999, 412(2): 319-341.
5. Amunts K, Lenzen M, et al. Broca’s Region: Novel Organizational Principles and Multiple Receptor Mapping. PLoS Biology, 2010;8(9): e1000489.
6. Stephanie B. Genetic advances in autosomal dominant focal epilepsies: focus on DEPDC5. Prog Brian Res, 2014, 213: 123-139.
7. Baldassari S, Licchetta L, Tinuper P, et al. GATOR1 complex: the common genetic actor in focal epilepsies. J Med Genet, 2016, 53(8): 503-510.
8. Dibbens LM, de Vries B, Donatello S, et al. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet, 2013, 45(5): 546-551.
9. Baulac S, Ishida S, Marsan E, et al. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann Neurol, 2015, 77(4): 675-683.
10. Scheffer IE, Heron SE, Regan BM, et al. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol, 2014, 75(5): 782-787.
11. Scerri T, Riseley JR, Gillies G, et al. Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. Ann Clin Transl Neurol, 2015; 2(5): 575-580.
12. 桑林, 胡文瀚, 劉暢, 等. DEPDC5 基因突變相關局灶性皮質發育不良并發癲癇手術治療 1 例并文獻復習. 疑難病雜志, 2017, 16(2): 141-143.
13. 歐陽梅, 李花, 等. DEPDC5 基因突變的遺傳性局灶性癲癇的臨床研究.癲癇雜志, 2018, 4(3): 192-200.

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