Analysis of gene mutations and clinical features about a sleep-related hypermotor epilepsy family_Journal of Epilepsy

Authors：

XIONG Jianrong ¹ ,  CHEN Xiang ²

1. The Fourth Affiliated Hospital of Medical College of Zhejiang University, Department of rehabilitation medicine, Yiwu 322000, China;
2. The Second Affiliated Hospital of Wenzhou Medical University, Department of Child Rehabilitation Medicine, Wenzhou 325027, China;

Corresponding author：

CHEN Xiang, Email: 516307535@qq.com

Keywords：

Epilepsy; Sleep; Treatment; Gene mutation

DOI：

10.7507/2096-0247.20210079

Video：

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Objective To provide the possibility to explain the relationship between genotype and phenotype, and to provide reference for the clinical treatment of Sleep-related hypermotor epilepsy (SHE). Methods We retrospectively analyzed the case data of the child (patient 1) diagnosed with SHE in the outpatient department of the Second Affiliated Hospital of Wenzhou Medical University in December 2017, and inquired about his family history and growth and development history. We learned that the father (patient 2) of the child had a history of epilepsy, and we also collected his medical history and growth and development history of patient 2. We carried out the basic physical examination for the two patients, and basic blood routine and blood biochemical indicators have also been done. In addition, electroencephalogram, Wechsler intelligence assessment and cranial magnetic resonance imaging were performed. After the diagnosis of patients 1 and 2, we treated them with antiepileptic drugs and make them long-term follow-up. What’more, we collected the peripheral blood of patient 1 and his father and mother, sequenced the gene, established phylogenetic tree for the mutation gene, and compared the homologous protein sequence to judge the conservation of the mutation. Moreover, in silico analysis was used to analyze the pathogenicity of the mutant gene. Results We find a family with epilepsy, of whom patient 1 and his father are with epilepsy. Their clinical manifestations are atypical, and their seizures are all in sleep. After a long-term follow-up of two patients' drug treatments, it is found that patient 1 and patient 2 respond well to the drugs. Gene test shows that the mutations of DEPDC5 (c.484-1del c.484_485del) and KCNQ2 (c.1164A> T) are at the same site in both patient 1 and patient 2, and the mutation sites are first reported. What’more, the homologous protein alignment shows that the amino acids corresponding to the two mutant genes are highly conserved. Conclusion This study mainly reports a family with sleep-related hypermotor epilepsy. Patients 1 and patient 2 have novel mutations of DEPDC5 and KCNQ2 genes. In the long-term follow-up of this study, it is found that the patients are effective the antiepileptic drugs.

Citation： XIONG Jianrong, CHEN Xiang. Analysis of gene mutations and clinical features about a sleep-related hypermotor epilepsy family. Journal of Epilepsy, 2021, 7(6): 481-491. doi: 10.7507/2096-0247.20210079 Copy

1.	Lugaresi E, Cirignotta F. Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome? Sleep, 1981, 4(2): 129-138.
2.	Vignatelli L, Bisulli F, Giovannini G, et al. Prevalence of nocturnal frontal lobe epilepsy in the adult population of Bologna and Modena, Emilia-Romagna region, Italy. Sleep, 2015, 38(3): 479-485.
3.	Tinuper P, Bisulli F, Cross JH, et al. Definition and diagnostic criteria of sleep-related hypermotor epilepsy. Neurology, 2016, 86(19): 1834-1842.
4.	Provini F, Plazzi G, Tinuper P, et al. Nocturnal frontal lobe epilepsy. A clinical and polygraphic overview of 100 consecutive cases. Brain, 1999, 122(Pt6): 1017-1031.
5.	Derry CP, Davey M, Johns M, et al. Distinguishing sleep disorders from seizures: diagnosing bumps in the night. Arch Neurol, 2006, 63: 705-709.
6.	Manni R, Terzaghi M, Repetto A. The FLEP scale in diagnosing nocturnal frontal lobe epilepsy, NREM and REM parasomnias: data from a tertiary sleep and epilepsy unit. Epilepsia, 2008, 49(9): 1581-1585.
7.	Licchetta L, Bisulli F, Vignatelli L, et al. Sleep-related hypermotor epilepsy: Long-term outcome in a large cohort. Neurology, 2017, 88(1): 70-77.
8.	Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain, 1995, 118(Pt1): 61-73.
9.	Alanis-Guevara I, Peña E, Corona T, et al. Sleep disturbances, socioeconomic status, and seizure control as main predictors of quality of life in epilepsy. Epilepsy Behav, 2005, 7(3): 481-485.
10.	Tinuper P, Bisulli F. From nocturnal frontal lobe epilepsy to Sleep-Related Hypermotor Epilepsy: A 35-year diagnostic challenge. Seizure, 2017, 44: 87-92.
11.	Freidel M, Krause E, Kuhn K, Peper R, Vogel H. Oxcarbazepin in der Epilepsietherapie [Oxcarbazepine in the treatment of epilepsy]. Fortschr Neurol Psychiatr, 2007, 75(2): 100-106.
12.	Maiti R, Mishra BR, Sanyal S, et al. Effect of carbamazepine and oxcarbazepine on serum neuron-specific enolase in focal seizures: A randomized controlled trial. Epilepsy Res, 2017, 138: 5-10.
13.	Nobili L, Francione S, Mai R, et al. Surgical treatment of drug-resistant nocturnal frontal lobe epilepsy. Brain, 2007, 130(Pt2): 561-573.
14.	Mertens A, Raedt R, Gadeyne S, et al. Recent advances in devices for vagus nerve stimulation. Expert Rev Med Devices, 2018, 15(8): 527-539.
15.	Möddel G, Coenen VA, Elger CE. Invasive Neurostimulation in der Epilepsietherapie [Invasive neurostimulation as adjunct treatment for epilepsy]. Nervenarzt, 2012, 83(8): 1001-1005.
16.	Marini C, Guerrini R. The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. Biochem Pharmacol, 2007, 74(8): 1308-1314.
17.	De Fusco M, Becchetti A, Patrignani A, et al. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet, 2000, 26(3): 275-276.
18.	Kuryatov A, Gerzanich V, Nelson M, et al. Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors. J Neurosci, 1997, 17(23): 9035-9047.
19.	Phillips HA, Scheffer IE, Crossland KM, et al. Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet, 1998, 63(4): 1108-1116.
20.	Phillips HA, Favre I, Kirkpatrick M, et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet, 2001, 68(1): 225-231.
21.	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.
22.	Weckhuysen S, Marsan E, Lambrecq V, et al. Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. Epilepsia, 2016, 57(6): 994-1003.
23.	Bonaglia MC, Giorda R, Epifanio R, et al. Partial deletion of DEPDC5 in a child with focal epilepsy. Epilepsia Open, 2016, 1(3-4): 140-144.
24.	Ishida S, Picard F, Rudolf G, et al. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet, 2013, 45(5): 552-555.
25.	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.
26.	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.
27.	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.
28.	Singh NA, Charlier C, Stauffer D, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet, 1998, 18(1): 25-29.
29.	Heron SE, Cox K, Grinton BE, et al. Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. J Med Genet, 2007, 44(12): 791-796.
30.	Singh NA, Westenskow P, Charlier C, et al. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain, 2003, 126(Pt12): 2726-2737.
31.	Dedek K, Kunath B, Kananura C, et al. Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. Proc Natl Acad Sci U S A, 2001, 98(21): 12272-12277.
32.	Zhou X, Ma A, Liu X, et al. Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2. Eur J Pediatr, 2006, 165(10): 691-695.
33.	Pisano T, Numis AL, Heavin SB, et al. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia, 2015, 56(5): 685-691.
34.	Kurahashi H, Wang JW, Ishii A, et al. Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures. Neurology, 2009, 73(15): 1214-1217.
35.	Pascual FT, Wierenga KJ, Ng YT. Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures. Epilepsy Behav Case Rep, 2013, 1: 35-38.
36.	Cockcroft K, Alloway T, Copello E, Milligan R. A cross-cultural comparison between South African and British students on the Wechsler Adult Intelligence Scales Third Edition (WAIS-III). Front Psychol, 2015, 6: 297.
37.	Dumont, R. and J. O. Willis, Wechsler Adult Intelligence Scale-Third Edition. 2008.
38.	Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res, 1988, 16(3): 1215.
39.	Kumar S, Stecher G, Li M, Knyaz C, Tamura K. MEGA X: Molecular Evolutionary Genetics Analysis across Computing Platforms. Mol Biol Evol, 2018, 35(6): 1547-1549.
40.	Shahzad MA, Khaliq S, Amar A, Mahmood S. Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation. J Mol Neurosci, 2017, 63(1): 84-90.
41.	Menghi V, Bisulli F, Tinuper P, Nobili L. Sleep-related hypermotor epilepsy: prevalence, impact and management strategies. Nat Sci Sleep, 2018, 10: 317-326.
42.	Yeh SB, Schenck CH. Sporadic Nocturnal Frontal Lobe Epilepsy-Report on Two Cases and Review of the First Taiwanese Series of 10 Cases. Acta Neurol Taiwan, 2017, 26(2): 55-63.
43.	Bisulli F, Vignatelli L, Naldi I, et al. Diagnostic accuracy of a structured interview for nocturnal frontal lobe epilepsy (SINFLE): a proposal for developing diagnostic criteria. Sleep Med, 2012, 13(1): 81-87.
44.	Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet, 1994, 343: 515-517.
45.	Millichap JJ, Miceli F, De Maria M, et al. Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. Epilepsia, 2017, 58(1): e10-e15.
46.	Allen NM, Mannion M, Conroy J, et al. The variable phenotypes of KCNQ-related epilepsy. Epilepsia, 2014, 55(9): e99-e105.
47.	Baulac S, Weckhuysen S. DEPDC5-Related Epilepsy. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; September 29, 2016.
48.	Symonds JD, Zuberi SM, Stewart K, et al. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain, 2019, 142(8): 2303-2318.
49.	Numis AL, Angriman M, Sullivan JE, et al. KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response. Neurology, 2014, 82(4): 368-370.
50.	Kurahashi H, Hirose S. Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; May 16, 2002.
51.	Scheffer IE. Autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia, 2000, 41(8): 1059-1060.
52.	Oldani A, Zucconi M, Asselta R, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A video‐polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. Brain, 1998, 121(pt2): 205-223.

1. Lugaresi E, Cirignotta F. Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome? Sleep, 1981, 4(2): 129-138.
2. Vignatelli L, Bisulli F, Giovannini G, et al. Prevalence of nocturnal frontal lobe epilepsy in the adult population of Bologna and Modena, Emilia-Romagna region, Italy. Sleep, 2015, 38(3): 479-485.
3. Tinuper P, Bisulli F, Cross JH, et al. Definition and diagnostic criteria of sleep-related hypermotor epilepsy. Neurology, 2016, 86(19): 1834-1842.
4. Provini F, Plazzi G, Tinuper P, et al. Nocturnal frontal lobe epilepsy. A clinical and polygraphic overview of 100 consecutive cases. Brain, 1999, 122(Pt6): 1017-1031.
5. Derry CP, Davey M, Johns M, et al. Distinguishing sleep disorders from seizures: diagnosing bumps in the night. Arch Neurol, 2006, 63: 705-709.
6. Manni R, Terzaghi M, Repetto A. The FLEP scale in diagnosing nocturnal frontal lobe epilepsy, NREM and REM parasomnias: data from a tertiary sleep and epilepsy unit. Epilepsia, 2008, 49(9): 1581-1585.
7. Licchetta L, Bisulli F, Vignatelli L, et al. Sleep-related hypermotor epilepsy: Long-term outcome in a large cohort. Neurology, 2017, 88(1): 70-77.
8. Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain, 1995, 118(Pt1): 61-73.
9. Alanis-Guevara I, Peña E, Corona T, et al. Sleep disturbances, socioeconomic status, and seizure control as main predictors of quality of life in epilepsy. Epilepsy Behav, 2005, 7(3): 481-485.
10. Tinuper P, Bisulli F. From nocturnal frontal lobe epilepsy to Sleep-Related Hypermotor Epilepsy: A 35-year diagnostic challenge. Seizure, 2017, 44: 87-92.
11. Freidel M, Krause E, Kuhn K, Peper R, Vogel H. Oxcarbazepin in der Epilepsietherapie [Oxcarbazepine in the treatment of epilepsy]. Fortschr Neurol Psychiatr, 2007, 75(2): 100-106.
12. Maiti R, Mishra BR, Sanyal S, et al. Effect of carbamazepine and oxcarbazepine on serum neuron-specific enolase in focal seizures: A randomized controlled trial. Epilepsy Res, 2017, 138: 5-10.
13. Nobili L, Francione S, Mai R, et al. Surgical treatment of drug-resistant nocturnal frontal lobe epilepsy. Brain, 2007, 130(Pt2): 561-573.
14. Mertens A, Raedt R, Gadeyne S, et al. Recent advances in devices for vagus nerve stimulation. Expert Rev Med Devices, 2018, 15(8): 527-539.
15. Möddel G, Coenen VA, Elger CE. Invasive Neurostimulation in der Epilepsietherapie [Invasive neurostimulation as adjunct treatment for epilepsy]. Nervenarzt, 2012, 83(8): 1001-1005.
16. Marini C, Guerrini R. The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. Biochem Pharmacol, 2007, 74(8): 1308-1314.
17. De Fusco M, Becchetti A, Patrignani A, et al. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet, 2000, 26(3): 275-276.
18. Kuryatov A, Gerzanich V, Nelson M, et al. Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors. J Neurosci, 1997, 17(23): 9035-9047.
19. Phillips HA, Scheffer IE, Crossland KM, et al. Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet, 1998, 63(4): 1108-1116.
20. Phillips HA, Favre I, Kirkpatrick M, et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet, 2001, 68(1): 225-231.
21. 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.
22. Weckhuysen S, Marsan E, Lambrecq V, et al. Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. Epilepsia, 2016, 57(6): 994-1003.
23. Bonaglia MC, Giorda R, Epifanio R, et al. Partial deletion of DEPDC5 in a child with focal epilepsy. Epilepsia Open, 2016, 1(3-4): 140-144.
24. Ishida S, Picard F, Rudolf G, et al. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet, 2013, 45(5): 552-555.
25. 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.
26. 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.
27. 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.
28. Singh NA, Charlier C, Stauffer D, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet, 1998, 18(1): 25-29.
29. Heron SE, Cox K, Grinton BE, et al. Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. J Med Genet, 2007, 44(12): 791-796.
30. Singh NA, Westenskow P, Charlier C, et al. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain, 2003, 126(Pt12): 2726-2737.
31. Dedek K, Kunath B, Kananura C, et al. Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. Proc Natl Acad Sci U S A, 2001, 98(21): 12272-12277.
32. Zhou X, Ma A, Liu X, et al. Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2. Eur J Pediatr, 2006, 165(10): 691-695.
33. Pisano T, Numis AL, Heavin SB, et al. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia, 2015, 56(5): 685-691.
34. Kurahashi H, Wang JW, Ishii A, et al. Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures. Neurology, 2009, 73(15): 1214-1217.
35. Pascual FT, Wierenga KJ, Ng YT. Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures. Epilepsy Behav Case Rep, 2013, 1: 35-38.
36. Cockcroft K, Alloway T, Copello E, Milligan R. A cross-cultural comparison between South African and British students on the Wechsler Adult Intelligence Scales Third Edition (WAIS-III). Front Psychol, 2015, 6: 297.
37. Dumont, R. and J. O. Willis, Wechsler Adult Intelligence Scale-Third Edition. 2008.
38. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res, 1988, 16(3): 1215.
39. Kumar S, Stecher G, Li M, Knyaz C, Tamura K. MEGA X: Molecular Evolutionary Genetics Analysis across Computing Platforms. Mol Biol Evol, 2018, 35(6): 1547-1549.
40. Shahzad MA, Khaliq S, Amar A, Mahmood S. Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation. J Mol Neurosci, 2017, 63(1): 84-90.
41. Menghi V, Bisulli F, Tinuper P, Nobili L. Sleep-related hypermotor epilepsy: prevalence, impact and management strategies. Nat Sci Sleep, 2018, 10: 317-326.
42. Yeh SB, Schenck CH. Sporadic Nocturnal Frontal Lobe Epilepsy-Report on Two Cases and Review of the First Taiwanese Series of 10 Cases. Acta Neurol Taiwan, 2017, 26(2): 55-63.
43. Bisulli F, Vignatelli L, Naldi I, et al. Diagnostic accuracy of a structured interview for nocturnal frontal lobe epilepsy (SINFLE): a proposal for developing diagnostic criteria. Sleep Med, 2012, 13(1): 81-87.
44. Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet, 1994, 343: 515-517.
45. Millichap JJ, Miceli F, De Maria M, et al. Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. Epilepsia, 2017, 58(1): e10-e15.
46. Allen NM, Mannion M, Conroy J, et al. The variable phenotypes of KCNQ-related epilepsy. Epilepsia, 2014, 55(9): e99-e105.
47. Baulac S, Weckhuysen S. DEPDC5-Related Epilepsy. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; September 29, 2016.
48. Symonds JD, Zuberi SM, Stewart K, et al. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain, 2019, 142(8): 2303-2318.
49. Numis AL, Angriman M, Sullivan JE, et al. KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response. Neurology, 2014, 82(4): 368-370.
50. Kurahashi H, Hirose S. Autosomal Dominant Nocturnal Frontal Lobe Epilepsy. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; May 16, 2002.
51. Scheffer IE. Autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia, 2000, 41(8): 1059-1060.
52. Oldani A, Zucconi M, Asselta R, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A video‐polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. Brain, 1998, 121(pt2): 205-223.

Journal of Epilepsy

Analysis of gene mutations and clinical features about a sleep-related hypermotor epilepsy family

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