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Reply to: “Letter: Two cases of persistent falcine and occipital sinuses”

Brain & development (Tokyo. 1979), 2021-01, Vol.43 (1), p.175-175

2021

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CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate

Scientific reports, 2022-05, Vol.12 (1), p.6505-6505, Article 6505

2022

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Water intoxication: A clue to the presence of classical Fabry disease

Brain & development (Tokyo. 1979), 2022-09, Vol.44 (8), p.592-593

2022

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A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis

Brain & development (Tokyo. 1979), 2022-11, Vol.44 (10), p.748-752

2022

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

Journal of human genetics, 2017-06, Vol.62 (6), p.653-655

2017

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De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

Journal of human genetics, 2015-12, Vol.60 (12), p.739-742

2015

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De novo GABRA1 mutations in Ohtahara and West syndromes

Epilepsia (Copenhagen), 2016-04, Vol.57 (4), p.566-573

2016

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

Journal of human genetics, 2019-05, Vol.64 (5), p.499-504

2019

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Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature

The Tohoku Journal of Experimental Medicine, 2022, Vol.258(1), pp.49-54

2022

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Recurrent de novo MAPK8IP3 variants cause neurological phenotypes

Annals of neurology, 2019-06, Vol.85 (6), p.927-933

2019

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Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2

The Tohoku Journal of Experimental Medicine, 2022, Vol.256(4), pp.321-326

2022

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Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant

Brain & development (Tokyo. 1979), 2021-09, Vol.43 (8), p.863-866

2021

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Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy

Brain & development (Tokyo. 1979), 2020-10, Vol.42 (9), p.696-699

2020

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Two cases of persistent falcine and occipital sinuses

Brain & development (Tokyo. 1979), 2021-01, Vol.43 (1), p.170-173

2021

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The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

Epilepsia (Copenhagen), 2016-11, Vol.57 (11), p.1858-1869

2016

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De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

American journal of human genetics, 2012-01, Vol.90 (1), p.86-90

2012

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Outcome of hemiplegic cerebral palsy born at term depends on its etiology

Brain & development (Tokyo. 1979), 2016-03, Vol.38 (3), p.267-273

2016

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Long-term outcome of a group of Japanese children with myelin-oligodendrocyte glycoprotein encephalomyelitis without preventive immunosuppressive therapy

Brain & development (Tokyo. 1979), 2019-10, Vol.41 (9), p.790-795

2019

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Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report

The Tohoku Journal of Experimental Medicine, 2024, pp.2024.J004

2024

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The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy

The Tohoku Journal of Experimental Medicine, 2024, Vol.262(1), pp.29-31

2024

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Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants

Brain & development (Tokyo. 1979), 2021-04, Vol.43 (4), p.505-514

2021

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The first report of Japanese patients with asparagine synthetase deficiency

Brain & development (Tokyo. 1979), 2017-03, Vol.39 (3), p.236-242

2017

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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

Brain & development (Tokyo. 1979), 2020-02, Vol.42 (2), p.199-204

2020

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De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures

Journal of human genetics, 2016-05, Vol.61 (5), p.381-387

2016

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Reply to: “Letter: Two cases of persistent falcine and occipital sinuses”

CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate

Water intoxication: A clue to the presence of classical Fabry disease

A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis

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

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

De novo GABRA1 mutations in Ohtahara and West syndromes

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

Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes

Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2

Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant

Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy

Two cases of persistent falcine and occipital sinuses

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

Outcome of hemiplegic cerebral palsy born at term depends on its etiology

Long-term outcome of a group of Japanese children with myelin-oligodendrocyte glycoprotein encephalomyelitis without preventive immunosuppressive therapy

Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report

The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy

Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants

The first report of Japanese patients with asparagine synthetase deficiency

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

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

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