Search filters

List of works by Manuela Pendziwiat

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.

scientific article

De novo variants in neurodevelopmental disorders with epilepsy

scientific article published on 25 June 2018

Defining the phenotypic spectrum of SLC6A1 mutations

scientific article published on 8 January 2018

Genome-wide association study in essential tremor identifies three new loci

scientific article published on 20 October 2016

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019

Lessons learned from 40 novel PIGA patients and a review of the literature

scientific article published on 26 May 2020

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

scientific article published on 4 January 2017

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

scientific article published on 29 May 2020

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants

scientific article published on 21 March 2022

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

scientific article published on 30 July 2016

The impact of rare variants in FUS in essential tremor

scientific article published on 28 January 2015

The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures

scientific article published on 15 June 2017

Paulina is supported by:

About Paulina

Help