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The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome

Journal of human genetics, 2014-12, Vol.59 (12), p.691-693

2014

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Spiky strings in de Sitter space

The journal of high energy physics, 2021-05, Vol.2021 (5), p.1-31, Article 47

2021

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A new paradigm for West syndrome based on molecular and cell biology

Epilepsy research, 2006-08, Vol.70, p.87-95

Kato, Mitsuhiro

2006

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Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

Brain (London, England : 1878), 2019-02, Vol.142 (2), p.322-333

2019

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ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H + -ATPases is essential for brain development in humans and mice

Nature communications, 2021-04, Vol.12 (1), p.2107-2107, Article 2107

2021

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Quantizing a multi-pronged open string junction

Progress of theoretical and experimental physics, 2022-10, Vol.2022 (10)

2022

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Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb

Annals of neurology, 2015-09, Vol.78 (3), p.375-386

2015

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Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review

Journal of human genetics, 2021-12, Vol.66 (12), p.1193-1197

2021

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Supersymmetric extended string field theory in NSn sector and NSn−1–R sector

Nuclear physics. B, 2016-09, Vol.910 (C), p.178-198

2016

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Supersymmetric extended string field theory in NS n sector and NS n−1 –R sector

Nuclear physics. B, 2016-09, Vol.910, p.178-198

2016

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De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

Journal of human genetics, 2020-09, Vol.65 (9), p.727-734

2020

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Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

Cell reports (Cambridge), 2018-01, Vol.22 (3), p.734-747

2018

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PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

Journal of human genetics, 2017-05, Vol.62 (5), p.525-529

2017

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Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

Epilepsia (Copenhagen), 2013-07, Vol.54 (7), p.1282-1287

2013

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De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

Nature genetics, 2008-06, Vol.40 (6), p.782-788

2008

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A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies

Journal of human genetics, 2021-12, Vol.66 (12), p.1189-1192

2021

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De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy

Annals of neurology, 2018-04, Vol.83 (4), p.794-806

2018

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A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly

Journal of human genetics, 2019-11, Vol.64 (11), p.1127-1132

2019

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Efficacy of ethosuximide on atonic seizures with KCNB1 mutation

Pediatric investigation, 2022-01, Vol.64 (1), p.e14871-n/a

2022

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Epileptic encephalopathy patients with SCN2A variant initiated by neonatal seizure

Pediatrics international, 2021-08, Vol.63 (8), p.971-972

2021

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Early onset epileptic encephalopathy caused by de novo SCN8A mutations

Epilepsia (Copenhagen), 2014-07, Vol.55 (7), p.994-1000

2014

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KIF1A mutation in a patient with progressive neurodegeneration

Journal of human genetics, 2014-11, Vol.59 (11), p.639-641

2014

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A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome

Journal of human genetics, 2023-01, Vol.68 (1), p.25-31

2023

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Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay

Scientific reports, 2016-07, Vol.6 (1), p.30072-30072, Article 30072

2016

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The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome

Spiky strings in de Sitter space

A new paradigm for West syndrome based on molecular and cell biology

Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H + -ATPases is essential for brain development in humans and mice

Quantizing a multi-pronged open string junction

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb

Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review

Supersymmetric extended string field theory in NSn sector and NSn−1–R sector

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Supersymmetric extended string field theory in NS n sector and NS n−1 –R sector

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies

De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy

A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly

Efficacy of ethosuximide on atonic seizures with KCNB1 mutation

Epileptic encephalopathy patients with SCN2A variant initiated by neonatal seizure

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

KIF1A mutation in a patient with progressive neurodegeneration

A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome

Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay

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