Jan H. Doring

Heidelberg, BW 69120, Germany

Last Updated: 09/26/2026

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Found 17 publications

Patient-derived monoclonal LGI1 autoantibodies elicit seizures, behavioral changes and brain MRI abnormalities in rodent models.

Patient-derived monoclonal LGI1 autoantibodies elicit seizures, behavioral changes and brain MRI abnormalities in rodent models.

Journal: Brain, behavior, and immunity

Published: November 12, 2024

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.

Journal: Human molecular genetics

Published: October 14, 2022

Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy.

Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy.

Journal: Neurology. Genetics

Published: April 22, 2022

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain.

Journal: European journal of human genetics : EJHG

Published: July 22, 2021

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

Journal: European journal of human genetics : EJHG

Published: June 22, 2021

Assessing the landscape of STXBP1-related disorders in 534 individuals.

Assessing the landscape of STXBP1-related disorders in 534 individuals.

Journal: Brain : a journal of neurology

Published: March 30, 2021

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.

Journal: International journal of molecular sciences

Published: February 06, 2021

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.

Journal: Frontiers in genetics

Published: February 03, 2021

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.

Journal: Biomedicines

Published: September 17, 2020

Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies.

Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 21, 2020

Exploring two-photon optogenetics beyond 1100 nm for specific and effective all-optical physiology.

Exploring two-photon optogenetics beyond 1100 nm for specific and effective all-optical physiology.

Journal: iScience

Published: July 01, 2020

Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS).

Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS).

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: June 06, 2020

Showing 1-12 of 17

Last Updated: 09/26/2026