Faculty Information - Makoto Funatsuka

（Last updated : 2022-08-12 13:09:51）

Makoto Funatsuka
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Department of Pediatrics

Position

■ Published papers

1.	Original article	HECW2-related disorder in four Japanese patients 2021/10
2.	Original article	Renal dysfunction is rare in Fukuyama congenital muscular dystrophy. 2019/01
3.	Original article	Aicardi-Goutières Syndrome Is Caused by IFIH1 Mutations 2014/07
4.	Original article	A case of diabetes mellitus associated with severe sleep apnea and Prader-Willi syndrome 2014/03
5.	Original article	A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study. 2014/03
6.	Original article	Insomnia in Patients with Fukuyama Congenital Muscular Dystrophy 2013/01
7.	Original article	A Loss-of-Function Mutation in the SLC9A6 Gene Causes X-Linked Mental Retardation Resembling Angelman Syndrome 2011/12
8.	Review article	Hallervorden-Spatz disease(panthenate kinase-associated neurodegeneration : PKAN) 2009/04/15
9.	Original article	Differentiation of myoclonic seizures in epileptic syndromes: A video-polygraphic study of 26 patients 2009
10.	Original article	Neurobehavioral abnormalities may correlate with increased seizure burden in children with Panayiotopoulos syndrome 2009
11.	Original article	Three patients with severe bilateral frontoparietal polymicrogyria. 2008
12.	Original article	TRH therapy in a patient with juvenile Alexander disease 2006/11
13.	Review article	TRH therapy in a patient with juvenile Alexander disease 2006/09
14.	Original article	Extremely low-dose ACTH step-up protocol for West syndrome: Maximum therapeutic effect with minimal side effects 2006/01
15.	Original article	Extremely low-dose ACTH step-up protocol for West syndrome:Maximum therapeutic effect with minimal side effects 2006
16.	Original article	Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan 2005/06
17.	Original article	Zonisamide for West syndrome: a comparison of clinical responses among different titration rate 2005/06
18.	Original article	Study on Photo-Pattern Sensitivity in Patients with Electronic Screen Game-Induced Seizures (ESGS) : Effects of Spatial Resolution, Brightness, and Pattern Movement 2001/09
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■ Academic conference presentation

1.	Knowledge and issues required for home care of children 2018/05/30
2.	Effcacy of particular therapy to atypical evolutions of idiopathic focal epilepsy in childhood 2016/06/04
3.	Diagnosis and prognosis of the neurometabolic diseases among our department 2016/06/03
4.	Effective antiepileptic drugs for epilepsy in Angelman syndorome 2016/06/03
5.	Renal dysfunction in patients with Fukuyama congenital muscular dystrophy 2014/10/09
6.	The first case of infantile-onset spinocerebellar ataxia in Japan caused by novel autosomal recessive Twinkle/C10orf2 mutations 2013/11/06
7.	Refractory and severe status epileptics in a patient with ring chromosome 20 syndrome 2011/10/06
8.	Two Japanese girls with juvenile-onset tumefactive multiple sclerosis 2011/05/13
9.	Clinical and electroencephalographic analysis in patients with Fukuyama congenital muscular dystrophy 2010/10/12
10.	The study of clinical effects and side effects on concentration of clobazam and N-desmethylclobazam 2007/11/02
11.	Video-polygraphic study of myoclonic seizures in the different myoclonic epilepsy syndromes 2007/11/02
12.	Prognostic Factors for Seizure Recurrences in Panayiotopoulos Syndrome(PS) 2007/01/24
13.	A case of juvenile dermatomyositis concurrent with Charcot-Marie-Tooth disease 2004/09/01
14.	Clinical analysis of patients with epilepsy and localized cortical dysgenesis. 2004/04/16
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