A clinical study of hereditary focal epilepsy with <i>DEPDC5</i> mutations _Journal of Epilepsy

Authors：

 OUYANG Mei , LI Hua , HU Xiangshu , LI Kaihui , ZHOU Qing , ZHANG Peiqi , JIN Yang , FEI Lingxia , ZHOU Jinhua , SHEN Dinglie

Epilepsy center, Sanjiu Brain Hospital, Guangzhou 510520, China;

Corresponding?author：

OUYANG Mei, Email: oymsunny@sina.com

Keywords：

DEPDC5 mutations; Familial hereditary focal; Epilepsy

DOI：

10.7507/2096-0247.20180034

Video：

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ObjectiveThe study aimed to investigate the clinical characteristics of epilepsy patients with DEPDC5 mutation, and to improve the understanding of familial hereditary focal epilepsy.MethodsThree families with familial hereditary focal epilepsy were enrolled in this study from September 2014 to September 2017 at the Sanjiu Brain Hospital of Guangdong Province. Epilepsy-related gene in peripheral blood was detected by the second generation sequencing. The medical history, family history, magnetic resonance imaging, electroencephalo-groph, treatment programs and other data were collected and aralyzed.ResultsThere were 8 patients in the three families, seizures of whom originate mostly from the frontal or temporal lobe. Cognitive function and other system function was basically normal fron patients treated with antiepilepsy drugs.ConclusionsThe mutations of DEPDC5 gene are common in familial hereditary focal epilepsy, which leads to the main clinical symptom of complex partial seizure. Antiepilepsy drug therapy is effective to most patients. However, to those drug resistant patients, prognosis can improved by surgical treatment.

Citation： OUYANG Mei, LI Hua, HU Xiangshu, LI Kaihui, ZHOU Qing, ZHANG Peiqi, JIN Yang, FEI Lingxia, ZHOU Jinhua, SHEN Dinglie. A clinical study of hereditary focal epilepsy with DEPDC5 mutations . Journal of Epilepsy, 2018, 4(3): 192-200. doi: 10.7507/2096-0247.20180034 Copy

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2.	Boillot M, Baulac S. Genetic models of focal epilepsies. J Neurosci Methods, 2016, 260: 132-143.
3.	Marsan E, Ishida S, Schramm A, et al. DEPDC5 knockout rat: A novel model of mTORopathy. Neurobiol Dis, 2016, 89: 180-189.
4.	Picard F, Makrythanasis P, Navarro V, et al. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. Neurology, 2014, 82(23): 2101-2106.
5.	Lal D, Reinthaler EM, Schubert J, et al. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol, 2014, 75(5): 788-792.
6.	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.
7.	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.
8.	Striano P, Serioli E, Santulli L, et al. DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. Epilepsia, 2015, 56(10): e168-e171.
9.	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.
10.	Bar-Peled L, Chantranupong L, Cherniack AD, et al. A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. Science, 2013, 340(6136): 1100-1106.

1. Chen T, Giri M, Xia Z, et al. Genetic and epigenetic mechanisms of epilepsy: a review. Neuropsychiatr Dis Treat, 2017, 13: 1841-1859.
2. Boillot M, Baulac S. Genetic models of focal epilepsies. J Neurosci Methods, 2016, 260: 132-143.
3. Marsan E, Ishida S, Schramm A, et al. DEPDC5 knockout rat: A novel model of mTORopathy. Neurobiol Dis, 2016, 89: 180-189.
4. Picard F, Makrythanasis P, Navarro V, et al. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. Neurology, 2014, 82(23): 2101-2106.
5. Lal D, Reinthaler EM, Schubert J, et al. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol, 2014, 75(5): 788-792.
6. 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.
7. 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.
8. Striano P, Serioli E, Santulli L, et al. DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy. Epilepsia, 2015, 56(10): e168-e171.
9. 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.
10. Bar-Peled L, Chantranupong L, Cherniack AD, et al. A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. Science, 2013, 340(6136): 1100-1106.

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