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1
HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models

von Houdayer, C ; Phillips, AM ; Chabbert, M ; et al.
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2
Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy

von Berecki, G ; Tao, E ; Howell, KB ; et al.
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3
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations

von Coleman, M ; Wang, M ; Snell, P ; et al.
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4
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease

von Howell, KB ; White, SM ; McTague, A ; et al.
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5
Fulfilling the needs of caregivers in delivering health services to children with developmental and epileptic encephalopathies

von Kelada, L ; Best, S ; Pierce, K ; et al.
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6
Efficacy and safety of two neutralising monoclonal antibody therapies, sotrovimab and BRII-196 plus BRII-198, for adults hospitalised with COVID-19 (TICO): a randomised controlled trial

von Self, Wesley H. ; Sandkovsky, Uriel ; Reilly, Cavan S. ; et al.

In The Lancet Infectious Diseases May 2022 22(5):622-635
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7
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE-SWAS)

von Viswanathan, S ; Oliver, KL ; Regan, BM ; et al.
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8
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies

von Coleman, M ; Pinares-Garcia, P ; Stephenson, SE ; et al.
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9
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice

von Scheffer, IE ; Bennett, CA ; Gill, D ; et al.
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10
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

von D'Gama, AM ; Mulhern, S ; Sheidley, BR ; et al.
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11
Anesthetic considerations in Dravet syndrome

von Macdonald-Laurs, E ; Corlette, S ; Davidson, A ; et al.
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12
Response to sequential treatment with prednisolone and vigabatrin in infantile spasms

von Dzau, W ; Cheng, S ; Snell, P ; et al.
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13
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants

von Berecki, G ; Howell, KB ; Heighway, J ; et al.
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14
ATP1A2-and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria

von Vetro, A ; Nielsen, HN ; Holm, R ; et al.
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15
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

von Tan, TY ; Sedmik, J ; Fitzgerald, MP ; et al.

The American Journal of Human Genetics (AJHG) , 106 (4) pp. 467-483. (2020)

Schlagworte: Science & Technology; Life Sciences & Biomedicine; Genetics & Heredity; MIGRATING PARTIAL SEIZURES; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; RNA RECOGNITION; BINDING DOMAINS; MICE DEFICIENT; MESSENGER-RNA; INFANCY; GENE; MUTATIONS; ADENOSINE
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16
Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firing

von Spyrou, J ; Aung, KP ; Vanyai, H ; et al.

Schlagworte: Journal Article
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17
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

von Lee, WS ; Stephenson, SEM ; Howell, KB ; et al.
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18
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania

von Ware, TL ; Huskins, SR ; Grinton, BE ; et al.
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19
Epilepsy syndromes in cerebral palsy: varied, evolving and mostly self-limited

von Cooper, MS ; Mackay, MT ; Dagia, C ; et al.
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20
A single point in protein trafficking by Plasmodium falciparum determines the expression of major antigens on the surface of infected erythrocytes targeted by human antibodies

von Chan, JA ; Howell, KB ; Langer, C ; et al.
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21
TBC1D24 genotype-phenotype correlation

von Balestrini, S ; Milh, M ; Castiglioni, C ; et al.
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22
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features

von Balestrini, S ; Milh, M ; Castiglioni, C ; et al.

Neurology , 87 (1) pp. 77-85. (2016)
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23
Unraveling the pathogenesis of arx polyalanine tract variants using a clinical and molecular interfacing approach

von Marques, I ; Sa, MJ ; Soares, G ; et al.
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24
Epileptic spasms are a feature of DEPDC5 mTORopathy

von Carvill, GL ; Crompton, DE ; Regan, BM ; et al.
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25
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

von Bar C ; Barcia G ; Jennesson M ; et al.
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