Epilepsy and outcome inFOXG1-related disorders

14q12 duplication including FOXG1: Is there a common age-dependent epileptic phenotype?

(2013) Chiara Bertossi et al.   BRAIN & DEVELOPMENT

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

(2013) Alex R. Paciorkowski et al.   NEUROGENETICS

Epilepsy in Rett syndrome, andCDKL5- andFOXG1-gene-related encephalopathies

(2012) Renzo Guerrini et al.   EPILEPSIA

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

(2012) Carolyn J Ellaway et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A genetic diagnostic approach to infantile epileptic encephalopathies

(2012) Benjamin A. Kamien et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice

(2011) Nicky S.J. Halbach et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

(2011) Alex R Paciorkowski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

(2011) F. Kortum et al.   JOURNAL OF MEDICAL GENETICS

West syndrome associated with 14q12 duplications harboring FOXG1

(2011) P. Striano et al.   NEUROLOGY

Genetic and Biologic Classification of Infantile Spasms

(2011) Alex R. Paciorkowski et al.   PEDIATRIC NEUROLOGY

Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype

(2011) Mario Mastrangelo et al.   PEDIATRIC NEUROLOGY

Epilepsy in Rett syndrome: Association between phenotype and genotype, and implications for practice

(2011) Basil Cardoza et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation and severe speech impairment

(2010) Nicola Brunetti-Pierri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

(2009) Alison Yeung et al.   European Journal of Medical Genetics

Favourable prognostic factors with infantile spasms

(2009) Raili S. Riikonen   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Neurodevelopmental and Epilepsy Outcomes in a North American Cohort of Patients With Infantile Spasms

(2009) Arthur Partikian et al.   JOURNAL OF CHILD NEUROLOGY

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

(2009) M. A. Mencarelli et al.   JOURNAL OF MEDICAL GENETICS

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

(2009) Nadia Bahi-Buisson et al.   NEUROGENETICS

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

(2008) Francesca Ariani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The genetics of early telencephalon patterning: some assembly required

(2008) Jean M. Hébert et al.   NATURE REVIEWS NEUROSCIENCE

A retrospective study on aetiology based outcome of infantile spasms

(2008) Georges Karvelas et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY