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Status dystonicus: a practice guide

Developmental medicine and child neurology, 2014-02, Vol.56 (2), p.105-112

2014

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Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

Epilepsia (Copenhagen), 2016-01, Vol.57 (1), p.e12-e17

2016

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The variable phenotypes of KCNQ‐related epilepsy

Epilepsia (Copenhagen), 2014-09, Vol.55 (9), p.e99-e105

2014

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Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A, NUIGi060-B, NUIGi060-C)

Stem cell research, 2023-09, Vol.71, p.103191-103191, Article 103191

2023

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Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.638C > T; p.Arg213Gln (NUIGi063-A, NUIGi063-B, NUIGi063-C) and 3 healthy controls (NUIGi064-A, NUIGi064-B, NUIGi064-C)

Stem cell research, 2023-06, Vol.69, p.103093-103093, Article 103093

2023

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Lyme Neuroborreliosis: A Potentially Preventable Cause of Stroke

The Journal of pediatrics, 2016-03, Vol.170, p.334-334.e1

2016

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Unusual Presentations of Dystrophinopathies in Childhood

Pediatrics (Evanston), 2018-04, Vol.141 (Suppl 5), p.S510-S514

2018

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Epileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype

Epilepsy & behavior reports, 2024-01, Vol.25, p.100647, Article 100647

2024

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Novel European SLC1A4 variant: infantile spasms and population ancestry analysis

Journal of human genetics, 2016-08, Vol.61 (8), p.761-764

2016

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Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C)

Stem cell research, 2020-07, Vol.46, p.101853-101853, Article 101853

2020

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Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B)

Stem cell research, 2021-05, Vol.53, p.102254-102254, Article 102254

2021

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Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B)

Stem cell research, 2021-04, Vol.52, p.102222-102222, Article 102222

2021

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The changing face of reported status dystonicus – A systematic review

Parkinsonism & related disorders, 2023-07, Vol.112, p.105438-105438, Article 105438

2023

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Macrocephaly Following the Bidirectional Glenn Procedure

The Journal of pediatrics, 2024-02, Vol.265, p.113804, Article 113804

2024

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Genetic potassium channel-associated epilepsies: Clinical review of the Kv family

European journal of paediatric neurology, 2020-01, Vol.24, p.105-116

2020

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Genetic potassium channel-associated epilepsies: Clinical review of the K v family

European journal of paediatric neurology, 2020-01, Vol.24, p.105

2020

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Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A)

Stem cell research, 2020-04, Vol.44, p.101722-101722, Article 101722

2020

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Status dystonicus in childhood

Current opinion in pediatrics, 2017-12, Vol.29 (6), p.674-682

2017

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Abnormal liver function tests and improved survival in a child with splice mutation TARP syndrome

BMJ case reports, 2023-03, Vol.16 (3), p.e253035

2023

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The 2017 and 2022 ILAE epilepsy classification systems identify needs and opportunities in care: A paediatric hospital-based study

Epilepsy & behavior, 2024-08, Vol.157, p.109804, Article 109804

2024

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4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2 -encephalopathy

Science translational medicine, 2021-09, Vol.13 (609), p.eaaz4957

2021

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Limbic Encephalitis in a Boy with N-Methyl-D-Aspartate Receptor Antibodies

The Journal of pediatrics, 2012-06, Vol.160 (6), p.1060-1060

2012

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Rethinking status dystonicus: A welcome start to a challenging problem

Movement disorders, 2018-02, Vol.33 (2), p.344-344

2018

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A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

European journal of human genetics : EJHG, 2020-08, Vol.28 (8), p.1066-1077

2020

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Not all Twitching is Epileptic! Hand Myoclonus in a Boy with Spinal Cord Tumor

The Journal of pediatrics, 2013-02, Vol.162 (2), p.431-431.e1

2013

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Status dystonicus: a practice guide

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

The variable phenotypes of KCNQ‐related epilepsy

Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.881C > T; p.Ala294Val (NUIGi059-A, NUIGi059-B, NUIGi059-C) and 3 healthy controls (NUIGi060-A, NUIGi060-B, NUIGi060-C)

Generation of three induced pluripotent stem cell lines from a patient with KCNQ2 developmental and epileptic encephalopathy as a result of the pathogenic variant c.638C > T; p.Arg213Gln (NUIGi063-A, NUIGi063-B, NUIGi063-C) and 3 healthy controls (NUIGi064-A, NUIGi064-B, NUIGi064-C)

Lyme Neuroborreliosis: A Potentially Preventable Cause of Stroke

Unusual Presentations of Dystrophinopathies in Childhood

Epileptic dyskinetic encephalopathy in KBG syndrome: Expansion of the phenotype

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis

Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C)

Derivation of four iPSC lines from a male ASD patient carrying a deletion in the middle coding region of NRXN1α gene (NUIGi039-A and NUIGi039-B) and a male sibling control (NUIGi040-A and NUIGi040-B)

Derivation of iPSC lines from two patients with autism spectrum disorder carrying NRXN1α deletion (NUIGi041-A, NUIG041-B; NUIGi045-A) and one sibling control (NUIGi042-A, NUIGi042-B)

The changing face of reported status dystonicus – A systematic review

Macrocephaly Following the Bidirectional Glenn Procedure

Genetic potassium channel-associated epilepsies: Clinical review of the Kv family

Genetic potassium channel-associated epilepsies: Clinical review of the K v family

Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A)

Status dystonicus in childhood

Abnormal liver function tests and improved survival in a child with splice mutation TARP syndrome

The 2017 and 2022 ILAE epilepsy classification systems identify needs and opportunities in care: A paediatric hospital-based study

4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2 -encephalopathy

Limbic Encephalitis in a Boy with N-Methyl-D-Aspartate Receptor Antibodies

Rethinking status dystonicus: A welcome start to a challenging problem

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

Not all Twitching is Epileptic! Hand Myoclonus in a Boy with Spinal Cord Tumor

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