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Paroxysmal nonkinesigenic dystonia and celiac disease.
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- Movement Disorders, 2007, v. 22, n. 5, p. 708, doi. 10.1002/mds.21148
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- Publication type:
- Article
Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand).
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- Journal of Child Neurology, 2022, v. 37, n. 6, p. 541, doi. 10.1177/08830738221091044
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- Publication type:
- Article
The Lived Experience of Parents' Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child.
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- Journal of Child Neurology, 2022, v. 37, n. 6, p. 451, doi. 10.1177/08830738221076285
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- Article
Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder.
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- Journal of Child Neurology, 2021, v. 36, n. 11, p. 998, doi. 10.1177/08830738211019576
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- Article
Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement.
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- Journal of Child Neurology, 2021, v. 36, n. 11, p. 974, doi. 10.1177/08830738211019284
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- Publication type:
- Article
Validating the Communication and Symbolic Behavior Scales–Developmental Profile Infant–Toddler Checklist (CSBS–DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder.
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- Journal of Autism & Developmental Disorders, 2024, v. 54, n. 7, p. 2526, doi. 10.1007/s10803-023-06002-w
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- Article
Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder.
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- 2020
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- Publication type:
- journal article
Infantile Spasms in Children With Down Syndrome: Identification and Treatment Response.
- Published in:
- Global Pediatric Health, 2019, v. 6, p. 1, doi. 10.1177/2333794X18821939
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- Publication type:
- Article
Infantile Spasms in Children With Down Syndrome: Identification and Treatment Response.
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- Global Pediatric Health, 2019, v. 6, p. N.PAG, doi. 10.1177/2333794X18821939
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- Publication type:
- Article
Hyperpolarization-activated current (I(h)) in vestibular calyx terminals: characterization and role in shaping postsynaptic events.
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- 2012
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- Publication type:
- journal article
Hyperpolarization-Activated Current ( I) in Vestibular Calyx Terminals: Characterization and Role in Shaping Postsynaptic Events.
- Published in:
- JARO - Journal of the Association for Research in Otolaryngology, 2012, v. 13, n. 6, p. 745, doi. 10.1007/s10162-012-0342-3
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- Publication type:
- Article
Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder.
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- Molecular Autism, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s13229-024-00601-9
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- Publication type:
- Article
Exploring genotype‐phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
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- Clinical Genetics, 2021, v. 99, n. 1, p. 157, doi. 10.1111/cge.13862
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- Publication type:
- Article
AMPA-Type Glutamate Receptor Conductance Changes and Plasticity: Still a Lot of Noise.
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- Neurochemical Research, 2019, v. 44, n. 3, p. 539, doi. 10.1007/s11064-018-2491-1
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- Publication type:
- Article
International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.
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- Frontiers in Neurology, 2022, p. 1, doi. 10.3389/fneur.2022.874695
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- Publication type:
- Article
Modulation of AMPA receptor unitary conductance by synaptic activity.
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- Nature, 1998, v. 393, n. 6687, p. 793, doi. 10.1038/31709
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- Publication type:
- Article
2014 Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequence of Seizures and Their Treatment Across The Lifespan.
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- Epilepsy Currents, 2016, v. 16, n. 3, p. 198
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- Publication type:
- Article
GettING in Touch With What Drives Your Inner Funky: Sources of CA1 Gamma Oscillations.
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- Epilepsy Currents, 2015, v. 15, n. 5, p. 271, doi. 10.5698/1535-7511-15.5.271
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- Publication type:
- Article
Autism and Epilepsy: Exploring the Relationship Using Experimental Models.
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- Epilepsy Currents, 2015, v. 15, n. 4, p. 206, doi. 10.5698/1535-7511-15.4.206
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- Publication type:
- Article
What You Seize Is What You Get: Do We Yet Understand Epilepsy in Rett Syndrome?
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- Epilepsy Currents, 2014, v. 14, n. 5, p. 283, doi. 10.5698/1535-7597-14.5.283
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- Publication type:
- Article
What the Dentate Gyrus and the Millennial in Your Basement Have in Common.
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- Epilepsy Currents, 2014, v. 14, n. 3, p. 152, doi. 10.5698/1535-7597-14.3.152
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- Publication type:
- Article
Benchmark IV Progressing Nicely: Rational Pharmacotherapy May Address Cognitive Decline in Epilepsy.
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- Epilepsy Currents, 2014, v. 14, n. 2, p. 90, doi. 10.5698/1535-7597-14.2.90
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- Publication type:
- Article
O Brother, Wherefore Are Thou? Calcium-Permeable AMPA Receptors Make an Appearance in Adult Status Epilepticus.
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- Epilepsy Currents, 2013, v. 13, n. 1, p. 32, doi. 10.5698/1535-7511-13.1.32
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- Publication type:
- Article
Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin‐dependent kinase‐like 5 deficiency disorder.
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- Journal of Sleep Research, 2022, v. 31, n. 5, p. 1, doi. 10.1111/jsr.13600
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- Publication type:
- Article
Whole‐exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms.
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- Developmental Medicine & Child Neurology, 2022, v. 64, n. 5, p. 633, doi. 10.1111/dmcn.15109
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- Publication type:
- Article
Discovery and characterization of a specific inhibitor of serine-threonine kinase cyclin-dependent kinase-like 5 (CDKL5) demonstrates role in hippocampal CA1 physiology.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.88206
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- Publication type:
- Article
Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63570
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- Article
Parental age effects and Rett syndrome.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 160, doi. 10.1002/ajmg.a.63396
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- Publication type:
- Article
Analysis of electrocardiograms in individuals with CDKL5 deficiency disorder.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 108, doi. 10.1002/ajmg.a.62995
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- Publication type:
- Article
Phenotypic features in MECP2 duplication syndrome: Effects of age.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 362, doi. 10.1002/ajmg.a.61956
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- Article
Megalencephalic leukoencephalopathy with cysts without MLC1 defect.
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- Annals of Neurology, 2010, v. 67, n. 6, p. 834, doi. 10.1002/ana.21980
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- Publication type:
- Article
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.
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- Epilepsia (Series 4), 2019, v. 60, n. 8, p. 1733, doi. 10.1111/epi.16285
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- Publication type:
- Article
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.
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- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05298-9
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- Publication type:
- Article
Analysis of X‐inactivation status in a Rett syndrome natural history study cohort.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1917
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- Publication type:
- Article
Bi-directional modulation of AMPA receptor unitary conductance by synaptic activity.
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- BMC Neuroscience, 2004, v. 5, p. 44, doi. 10.1186/1471-2202-5-44
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- Publication type:
- Article