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1. 小児における痙攣およびてんかん：分類、病因、および臨床的特徴 seizures and epilepsy in children classification etiology and clinical features
2. 神経管欠損および脳室拡大を除く中枢神経系異常の出生前診断 prenatal diagnosis of cns anomalies other than neural tube defects and ventriculomegaly
3. ペルオキシソーム病 peroxisomal disorders
4. 結節性硬化症：遺伝学、臨床的特徴、および診断 tuberous sclerosis complex genetics clinical features and diagnosis
5. 小頭症に対する臨床遺伝学的アプローチ microcephaly a clinical genetics approach

Periventricular white matter abnormalities and restricted repetitive behavior in autism spectrum disorder.

Blackmon K1, Ben-Avi E2, Wang X1, Pardoe HR1, Di Martino A3, Halgren E4, Devinsky O1, Thesen T5, Kuzniecky R1.
NeuroImage. Clinical.Neuroimage Clin.2015 Oct 31;10:36-45. doi: 10.1016/j.nicl.2015.10.017. eCollection 2016.
Malformations of cortical development are found at higher rates in autism spectrum disorder (ASD) than in healthy controls on postmortem neuropathological evaluation but are more variably observed on visual review of in-vivo MRI brain scans. This may be due to the visually elusive nature of many mal
PMID 26693400

Kim YO1, Nam TS2, Park C3, Kim SK4, Yoon W4, Choi SY5, Kim MK2, Woo YJ6.
Brain & development.Brain Dev.2015 Dec 29. pii: S0387-7604(15)00259-4. doi: 10.1016/j.braindev.2015.12.005. [Epub ahead of print]
Doublecortin (DCX) and tubulin play critical roles in neuronal migration. DCX mutations usually cause anterior dominant lissencephaly in males and subcortical band heterotopia (SBH) in females. We used whole-exome sequencing to investigate causative gene variants in a large family with late-childhoo
PMID 26743950

Cognitive impairment and spontaneous epilepsy in rats with malformations of cortical development.

Ye-Wei X1, Rong W2, Xun-Tai M3, Shan Z2, Qian C2, Shi-Hua H2, Fu-Qun M2, Xiao-Ming X4.
Seizure.Seizure.2015 Dec;33:29-34. doi: 10.1016/j.seizure.2015.10.005. Epub 2015 Oct 17.
PURPOSE: To examine the cognition, spontaneous epilepsy, and electroencephalography (EEG) characteristics of rats with malformations of cortical development (MCD) and their use as an animal model for investigating the pathogenesis of intractable epilepsy and screening novel antiepileptic drugs.METHO
PMID 26540232

五十嵐愛子,川谷正男,巨田元礼,米谷博,大嶋勇成,加藤光広
脳と発達 45(5), 371-374, 2013
… 胎児期より脳室拡大を指摘され, 出生後の脳MRIで前頭優位の厚脳回を伴った皮質下帯状異所性灰白質 (subcortical band heterotopia;SBH) と診断された. …
NAID 130004698889

Diffuse subcortical band heterotopia, periodic limb movements during sleep and a novel "de novo" mutation in the DCX gene

PARISI Pasquale,MIANO Silvia,MEI Davide,PAOLINO Maria Chiara,CASTALDO Rosa,VILLA Maria Pia
Brain & development 32(6), 511-515, 2010-06-01
NAID 10027491854