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Brain morphological abnormalities in children with cyclin-dependent kinase-like 5 deficiency disorder

期刊: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2021; 31 ()

Background: To quantitatively evaluate the brain MRI morphological abnormalities in patients with cyclin-dependent kinase-like 5 deficiency disorder (......

Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy"

期刊: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2020; 24 ()

The recent introduction of the term 'developmental and epileptic encephalopathy' by the International League Against Epilepsy has added another concep......

Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with ventriculomegaly

期刊: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2020; 25 ()

Objectives: To systematically investigate chromosomal abnormalities and copy number variants (CNVs) in fetuses with different types of ventriculomegal......

Pediatric intracranial arteriovenous shunts: Advances in diagnosis and treatment

期刊: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2020; 25 ()

Pediatric intracranial arteriovenous shunts (IAVSs) comprise a wide range of lesions, including pial arteriovenous malformation (AVM) and arteriovenou......

Effectiveness of hand-arm bimanual intensive training on upper extremity function in children with cerebral palsy: A systematic review

期刊: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2020; 25 ()

Objective: To systematically review the effectiveness of Hand-Arm Bimanual Intensive Training (HABIT) on upper limb function in children with cerebral......

Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders

期刊: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2020; 24 ()

The four voltage-gated sodium channels SCN1/2/3/8A have been associated with heterogeneous types of developmental disorders, each presenting with dise......

A therapeutic regimen for 3-hydroxyisobutyryl-CoA hydrolase deficiency with exercise-induced dystonia

期刊: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2019; 23 (5)

3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a recently described disease resulting from mutations in HIBCH with no effective treatment. He......

JIF:2.5

Jeavons syndrome featured with visual sensitivity existing as occipital cortex originating focal-to-generalized continuum epilepsy

期刊: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2022; 40 ()

Objective: To study the relationship between eye closure sensitivity (ECLS), photosensitivity, and the mechanism of Jeavons syndrome (JS). Methods: Th......

JIF:2.322

Comparison of clinical characteristics between cluster and isolated seizures associated with benign convulsions with mild gastroenteritis

期刊: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2022; 36 ()

Background and purpose: Cluster seizures have not been specifically reported in benign convulsions with mild gastroenteritis (CWG), which are usually ......

JIF:2.322

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