List of works - Takehiko Inui

A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy

scientific article published on 19 March 2018

A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy ⬇️

scientific article published on January 20, 2013

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy

scientific article published on 22 November 2018

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.

scientific article published on 2 February 2017

A patient with Muenke syndrome manifesting migrating neonatal seizures.

scientific article published on 24 May 2017

A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation.

scientific article published on 15 December 2017

Absence of small-vessel abnormalities in alternating hemiplegia of childhood ⬇️

scientific article published on 09 September 2010

Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia ⬇️

scientific article published on November 2, 2012

Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation.

scientific article

Detection of copy number variations in epilepsy using exome data.

scientific article published on 22 September 2017

Efficacy of long term weekly ACTH therapy for intractable epilepsy.

scientific article published on 20 August 2014

First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.

scientific article published on 7 May 2016

Genomic analysis identifies masqueraders of full-term cerebral palsy.

scientific article

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome

scientific article published on 06 March 2019

Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan

scientific article published on 28 August 2015

Patchy white matter hyperintensity in ring chromosome 18 syndrome.

scientific article published on 31 August 2016

Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms

scientific article published on 15 November 2019

Profiles of blood biomarkers in alternating hemiplegia of childhood – Increased MMP-9 and decreased substance P indicates its pathophysiology ⬇️

scientific article published on May 7, 2011

The first report of Japanese patients with asparagine synthetase deficiency.

scientific article published on 12 October 2016

The lack of antiepileptic drugs and worsening of seizures among physically handicapped patients with epilepsy during the Great East Japan Earthquake

scientific article published on February 2016

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation

scientific article published on 23 April 2018

Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2

scientific article published on 16 September 2019

[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome

scientific article published on 27 August 2018

List of works by Takehiko Inui