小児科臨床ピクシス　3　小児てんかんの最新医療　改訂第2版

1章 総論

P.13 掲載の参考文献

1) Commision on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989 ; 30 : 389-99.

 

P.16 掲載の参考文献

1) Camfield P, Camfield C. Special considerations for a first seizure in childhood and adolescence. Epilepsia 2008 ; 49 (Suppl 1) : 40-4.

 

2) Hirtz D, et al. Practice parameter : treatment of the child with a first unprovoked seizure. Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2003 ; 60 : 166-75.

 

3) Shinnar S, et al. How long do new-onset seizures in children last? Ann Neurol 2001 ; 49 : 659-64.

 

4) Berg AT, et al. Early development of intractable epilepsy in children. A prospective study. Neurology 2001 ; 56 : 1445-52.

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5) Berg AT. Risk of recurrence after a first unprovoked seizure. Epilepsia 2008 ; 49 (Suppl 1) : 13-8.

 

6) Heaney DC, et al. The socioeconomic, cultural, and emotional implications of starting or withholding treatment in a patient with a first seizure. Epilepsia 2008 ; 49 (Suppl 1) : 35-9.

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7) Chandramoulesswaran V, et al. Patient's preferences towards antiepileptic drug therapy following first attack of seizure. Neurol India 2006 ; 54 : 387-9.

 

P.21 掲載の参考文献

1) Freeman JM, et al. Seizures and Epilepsy in Childhood : A Guide for Parents. 2nd ed. Baltimore : Johns Hopkins Univeristy Press ; 1997.

 

2) Engel J, Pedley TA, editors. Epilepsy : A Comprehensive Textbook. 2nd ed. Philadelphia : Wolters Kluwer ; 2008.

 

3) Najm I, et al. Pathophysiological mechanisms of focal cortical dysplasia : a critical review of human tissue studies and animal models. Epilepsia 2007 ; 48 (Suppl 2) : 21-32.

 

4) Avanzini G, et al. Epileptogenic channelopathies : experimental models of human pathologies. Epilepsia 2007 ; 48 (Suppl 2) : 51-64.

 

2章 てんかんの原因

P.27 掲載の参考文献

1) Wyllie E, et al. editors. The Treatment of Epilepsy : Principles and Practice. 4th ed. Philadelphia : Lippincott Williams & Wilkins ; 2006.

 

P.31 掲載の参考文献

1) Hahn JS, Plawner LL. Evaluation and management of children with holoprosencephaly. Pediatr Neurol 2004 ; 31 : 79-88.

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2) Sasaki M, et al. Clinical aspects of hemimegalencephaly by means of a nationwide survey. J Child Neurol 2005 ; 20 : 337-41.

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3) Guerrini R. Genetic malformations of the cerebral cortex and epilepsy. Epilepsia 2005 ; 46 Suppl 1 : 32-7.

 

4) 加藤光広. 脳形成障害・てんかんのトピックス-年齢依存性てんかん性脳症と介在ニューロン病. 脳と発達 2010 ; 42 : 333-8.

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P.35 掲載の参考文献

1) Heron SE, et al. Channelopathies in idiopathic epilepsy. Neurotherapeutics 2007 ; 4 : 295-304.

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2) Harkin LA, et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007 ; 130 : 843-52.

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3) Holland KD, et al. Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy. Neurosci Lett 2008 ; 433 : 65-70.

 

P.37 掲載の参考文献

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3) Spooner CG, et al. New-onset temporal lobe epilepsy in children : lesion on MRI predicts poor seizure outcome. Neurology 2006 ; 67 : 2147-53.

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4) Bocti C, et al. The pathological basis of temporal lobe epilepsy in childhood. Neurology 2003 ; 60 : 191-5.

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P.39 掲載の参考文献

1) 領域別症候群シリーズ 37. 神経症候群 VI. 大阪 : 日本臨牀社 ; 2002.

 

1) Eisermann MM, et al. Infantile spasms in Down syndrome : effects of delayed anticonvulsive treatment. Epilepsy Res 2003 ; 55 (1-2) : 21-7.

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2) Haslem RHA. The nervous system. Neonatal seizures. In : Behrman RE, et al. Nelson Textbook of Pediatrics. 16th ed. Philadelphia : WB Saunders ; 2000. p. 1825-7.

 

3) Marseille Consensus Group. Classification of progressive myoclonus epilepsies and related disorders. Ann Neurol 1990 ; 28 : 113-6.

 

P.41 掲載の参考文献

1) Gomez MR, et al, editors. Tuberotis Sclerosis Complex. 3rd ed. London : Oxford University Press ; 1999.

 

2) 水口雅. 結節性硬化症. 小児内科 2006 ; 38 : S664-5.

 

P.43 掲載の参考文献

1) 新島新一ほか. Sturge-Weber症候群の脳神経学的治療. 日小皮会誌 1994 ; 13 : 141-7.

 

2) 野村耕治. 母斑症. 小児科診療 2004 ; 67 : 1249-55.

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3) 大槻泰介. 小児のてんかん外科治療. 小児内科 2007 ; 39 : 952-5.

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4) Kramer U, et al. Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures. Dev Med Child Neurol 2000 ; 42 : 756-9.

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5) 洲鎌盛一. Sturge-Weber症候群. 小児内科 (増刊) 2006 ; 38 : 668-9.

 

P.45 掲載の参考文献

1) Minassian BA, et al. Angelman syndrome : correlations between epilepsy phenotypes and genotypes. Ann Neurol 1998 ; 43 : 485-93.

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2) Galvan-Manso M, et al. Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome. Epileptic Disord 2005 ; 7 : 19-25.

 

3) DeLorey TM, et al. Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome. J Neurosci 1998 ; 18 : 8505-14.

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4) van Woerden GM, et al. Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of α CaMK II inhibitory phosphorylation. Nat Neurosci 2007 ; 10 : 280-2.

 

5) Sugiura C, et al. High-dose ethosuximide for epilepsy in Angelman syndrome : implication of GABA (A) receptor subunit. Neurology 2001 ; 57 : 1518-9.

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6) Thibert RL, et al. Epilepsy in Angelman syndrome : a questionnaire-based assessment of the natural history and current treatment options. Epilepsia 2009 ; 50 : 2369-76.

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P.47 掲載の参考文献

1) 中井博史. Down症候群. 小児内科 (増刊) 2003 ; 35 : 170-5.

 

2) 平山義人ほか. ダウン症候群のライフサイクルに応じた健康管理. 大野耕策ほか編. 知的障害者の健康管理マニュアル. 東京 : 診断と治療社 ; 2007. p. 71-81.

 

3) Roger J, et al. Epileptic Syndromes in Infancy, Childhood and Adolescence. 4th ed. Montrouge, France : John Libbey Eurotext ; 2005. p. 475-6.

 

4) Eisermann MM, et al. Infantile spasms in Down syndrome-effects of delayed anticonvulsive treatment. Epilepsy Res 2003 ; 55 : 21-7.

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5) Kumada T, et al. Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy. Brain Dev 2005 ; 27 : 127-34.

 

P.49 掲載の参考文献

1) 大橋博文. 4番染色体異常 (4pモノソミー症候群). 小児内科 (増刊) 2003 ; 35 : 183-5.

 

2) Endele S, et al. LETM1, a novel gene encoding a putative EF-hand Ca (2+) -binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients. Genomics 1999 ; 60 : 218-25.

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3) Battaglia D, et al. Electroclinical patterns and evolution of epilepsy in the 4p- syndrome. Epilepsia 2003 ; 44 : 1183-90.

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4) Kagitani-Shimono K, et al. Epilepsy in Wolf-Hirschhorn syndrome (4p-). Epilepsia 2005 ; 46 : 150-5.

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P.51 掲載の参考文献

1) Fukuhara N, et al. Myoclonus epilepsy associated with ragged-red fibers (mitochondrial abnormalities) : disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. J Neurol Sci 1980 ; 47 : 117-33.

 

2) Nakamura M, et al. A novel point mutation in the mitochondrial tRNA (Ser (UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. Biochem Biophys Res Commun 1995 ; 214 : 86-93.

 

3) Montagna P, et al. MELAS syndrome : characteristic migrainous and epileptic features and maternal transmission. Neurology 1988 ; 38 : 751-4.

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4) Veggiotti P, et al. Epilepsia partialis continua in a case of MELAS : clinical and neurophysiological study. Neurophysiol Clin 1995 ; 25 : 158-66.

 

P.55 掲載の参考文献

1) 青木経稔ほか. Menkes病からoccipital horn症候群の臨床病型と遺伝型. 小児科 1997 ; 38 : 247-58.

 

2) Das S, et al. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and blotchy mouse. Am J Hum Genet 1995 ; 56 : 570-6.

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4) 小沢浩, 児玉浩子. Menkes病. 小児内科 (増刊) 2007 ; 39 : 523-5.

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5) 小沢浩ほか. 膀胱出血により死亡したMenkes病の一例. 脳と発達 2002 ; 34 : 431-5.

 

P.57 掲載の参考文献

1) 井田博幸. Gaucher病. 先天代謝異常症候群 (下巻). 別冊日本臨牀 領域別症候群 19. 大阪 : 日本臨牀社 ; 1998. p. 356-9.

 

2) Pastores GM, Kolodny EH. Gaucher's Disease. In : Swaiman KF, et al, editors. Pediatric Neurology : Principles and Practice. 4th ed. Philadelphia : Mosby ; 2006. p.670-3.

 

3) Ida H, et al. Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation. Hum Genet 1999 ; 105 : 120-6.

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5) Lee SY, et al. Gaucher disease with pulmonary involvement in a 6-year-old girl : Report of resolution of radiographic abnormalities on increasing dose of imiglucerase. J Pediatr 2001 ; 139 : 862-4.

 

P.59 掲載の参考文献

1) 辻省次. DRPLAの分子遺伝学的研究の展望. 日本臨牀 1999 ; 57 : 843-9.

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2) Shimojo Y, et al. Severe infantile dentatorubral pallidoluysian atrophy with extreme expansion of CAG repeats. Neurology 2001 ; 56 : 277-8.

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3｝廣瀬三恵子ほか. Piracetamが動作性ミオクローヌスに有効であった歯状核赤核淡蒼球ルイ体萎縮症の1例. 脳と発達 2004 ; 36 : 75-9.

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3章 発作の見方と診断

P.63 掲載の参考文献

1) Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised clinical and electroencephalographic classification of epileptic seizures. Epilepsia 1981 ; 22 : 489-501.

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2) Berg ET, et al. Revised terminology and concepts for organization of seizures and epilepsies : report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010 ; 51 : 676-85.

 

3) Commission on Classification and Terminology of the International League Against Epilepsy : proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989 ; 30 : 389-99.

PubMed

4) 椎原弘章. てんかんの定義と鑑別診断. 小児内科 2002 ; 34 : 691-9.

 

P.66 掲載の参考文献

1) Commission on Classification and Terminology of the ILAE. Proposal for revised clinical and electroencephalographic classification of epileptic seizures. Epilepsia 1981 ; 22 : 489-501.

 

2) Engel J Jr. 国際抗てんかん連盟 てんかん発作とてんかんの診断大要案. てんかん研究 2003 ; 21 : 242-51.

 

3) 風祭元, 菅野道. てんかんの臨床像. 発作症状 (1). 秋元波留夫, 山内俊雄編. てんかん学. 東京 : 岩崎学術出版社 ; 1984. p. 75-91.

 

4) 八木和一. てんかん発作型分類について. 日本小児神経学会卒後教育委員会編. 小児神経学の進歩 第25集. 東京 : 診断と治療社 ; 1996. p. 2-12.

 

P.70 掲載の参考文献

1) Commission on Classification and Terminology of the ILAE. Proposal for revised clinical and electroencephalographic classification of epileptic seizures. Epilepsia 1981 ; 22 : 489-501.

 

2) Engel J Jr. 国際抗てんかん連盟 てんかん発作とてんかんの診断大要案. てんかん研究 2003 ; 21 : 242-51.

 

3) 風祭元, 菅野道. てんかんの臨床像. 発作症状 (1). 秋元波留夫, 山内俊雄編. てんかん学. 東京 : 岩崎学術出版社 ; 1984. p. 75-91.

 

4) 八木和一. てんかん発作型分類について. 日本小児神経学会卒後教育委員会編. 小児神経学の進歩 第25集. 東京 : 診断と治療社 ; 1996. p. 2-12.

 

4章 鑑別すべき疾患

P.75 掲載の参考文献

1) 磯田貴義. 失神. 五十嵐隆ほか編. 今日の小児診断指針. 第4版. 東京 : 医学書院 ; 2004. p. 55-8.

 

2) 賀藤均. 失神. 小児科 2001 ; 42 (4) : 492-7.

 

3) 山田克彦, 犬塚幹. 小児の神経調節性失神. 小児科 2005 ; 46 (12) : 2016-23.

 

4) Crotti L, et al. Congenital long QT syndrome. Orphanet J Rare Dis 2008 ; 3 : 18.

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P.79 掲載の参考文献

1) 藤原建樹監修, 高橋幸利編. 小児てんかん診療マニュアル. 東京 : 診断と治療社 ; 2006.

 

2) 神山潤. 睡眠の生理と臨床-健康を育む「ねむり」の科学. 東京 : 診断と治療社 ; 2003.

 

3) 花井敏男. けいれんとけいれん類似症状との鑑別. 小児内科 1999 ; 31 : 455-9.

 

4) Aicardi J. Paroxysmal disorders other than epilepsy. In : Aicardi J, et al, editors. Diseases of the Nervous System in Childhood. London : MacKeith Press ; 1998. p. 638-63.

 

P.83 掲載の参考文献

1) Camfield CS, et al. Febrile seizures. In : Engel J, Pedley TA, editors. Epilepsy : A Comprehensive Textbook. 2nd ed. Philadelphia : Lippincott Williams & Wilkins ; 2007. p. 659-64.

 

2) 福山幸夫ほか. 熱性けいれんの指導ガイドライン. 小児科臨床 1996 ; 49 : 207-15.

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5) 伊藤正利. 熱性けいれん-再発防止を含めて. 小児内科 2006 ; 38 : 406-9.

 

P.85 掲載の参考文献

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2) 松岡典子ほか. テオフィリン治療中に生じたけいれん重積状態の臨床的検討. 日本小児科学会雑誌 2006 ; 110 : 1234-41.

 

3) 塩見正司. テオフィリンは治療域濃度であってもけいれん重積型急性脳症の原因となる. 小児科臨床 2006 ; 59 : 187-96.

 

5章 検査

P.87 掲載の参考文献

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4) Frye RE, et al. Folinic acid-responsive seizures presenting as breakthrough seizures in a 3-month-old boy. J Child Neurol 2003 ; 18 : 562-9.

 

P.89 掲載の参考文献

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2) Salinsky M, et al. Effectiveness of multiple EEGs in supporting the diagnosis of epilepsy : an operational curve. Epilepsia 1987 ; 28 : 331-4.

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5) Aydin K, et al. Utility of electroencephalography in the evaluation of common neurologic conditions in children. J Child Neurol 2003 ; 18 : 394-6.

 

P.95 掲載の参考文献

1) 前垣義弘. 実践 小児脳波入門-日常診療に役立つ脳波アトラス. 大阪 : 永井書店 ; 2007.

 

P.99 掲載の参考文献

1) 前垣義弘. 実践 小児脳波入門-日常診療に役立つ脳波アトラス. 大阪 : 永井書店 ; 2007.

 

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1) Kubota M. Modern neurophysiological methods in pediatric practice with special reference to magnetoencephalography. In : Panteliadis CP, Darras BT, editors. Encyclopaedia of Paediatric Neurology, Theory and Practice. 3rd ed. Stuttgart : Georg Thieme Verlag ; 2005. p. 113-34.

 

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2) Barkovich AJ. Pediatric Neuroimaging. 4th ed. Philadelphia : Lippincott Williams & Wilkins 2005. p. 252-8.

 

3) Louis DN, et al. The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol 2007 ; 114 : 97-109.

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6章 てんかん症候群

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付録

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