New Genes for Focal Epilepsies with Speech and Language Disorders

GRIN2A: An aptly named gene for speech dysfunction

(2015) S. J. Turner et al.   NEUROLOGY

Towards the identification of a genetic basis for Landau-Kleffner syndrome

(2014) Judith Conroy et al.   EPILEPSIA

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

(2014) Eva M. Reinthaler et al.   HUMAN MOLECULAR GENETICS

Ten questions about terminology for children with unexplained language problems

(2014) D. V. M. Bishop   INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS

Specific language impairment: a convenient label for whom?

(2014) Sheena Reilly et al.   INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS

GRIN2Amutation and early-onset epileptic encephalopathy: personalized therapy with memantine

(2014) Tyler Mark Pierson et al.   Annals of Clinical and Translational Neurology

FOXP2 Targets Show Evidence of Positive Selection in European Populations

(2013) Qasim Ayub et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

(2013) Samantha J Turner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rare exonic deletions of theRBFOX1gene increase risk of idiopathic generalized epilepsy

(2013) Dennis Lal et al.   EPILEPSIA

A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes includingGRIN2AandPRRT2

(2013) Sarra Dimassi et al.   EPILEPSIA

Clinical genetic study of the epilepsy-aphasia spectrum

(2013) Meng-Han Tsai et al.   EPILEPSIA

Shining a light on CNTNAP2: complex functions to complex disorders

(2013) Pedro Rodenas-Cuadrado et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

(2013) Johannes R Lemke et al.   NATURE GENETICS

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

(2013) Gaetan Lesca et al.   NATURE GENETICS

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

(2013) Gemma L Carvill et al.   NATURE GENETICS

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

(2013) Dennis Lal et al.   PLoS One

Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations

(2013) Wei-Wei Zhao   Molecular Cytogenetics

Rare inheritedA2BP1deletion in a proband with autism and developmental hemiparesis

(2012) L.K. Davis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

Identification of single gene deletions at 15q13.3: further evidence thatCHRNA7causes the 15q13.3 microdeletion syndrome phenotype

(2012) N Hoppman-Chaney et al.   CLINICAL GENETICS

Benign childhood focal epilepsies

(2012) Renzo Guerrini et al.   EPILEPSIA

Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes

(2012) Danya F. Vears et al.   EPILEPSIA

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism

(2012) Gaetan Lesca et al.   EPILEPSIA

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

(2012) Dianne F Newbury et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome

(2012) Gordana Raca et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization

(2012) Jennifer J.S. Laffin et al.   GENETICS IN MEDICINE

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development

(2012) Brent L. Fogel et al.   HUMAN MOLECULAR GENETICS

Phenotype of FOXP2 haploinsufficiency in a mother and son

(2011) Gregory M. Rice et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

Copy Number Variations in Patients With Electrical Status Epilepticus in Sleep

(2011) Sietske H.G. Kevelam et al.   JOURNAL OF CHILD NEUROLOGY

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

(2011) Josephine Elia et al.   NATURE GENETICS

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

(2011) Lauren T Gehman et al.   NATURE GENETICS

Neural bases of childhood speech disorders: Lateralization and plasticity for speech functions during development

(2011) Frédérique J. Liégeois et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

NeuN/Rbfox3 Nuclear and Cytoplasmic Isoforms Differentially Regulate Alternative Splicing and Nonsense-Mediated Decay of Rbfox2

(2011) B. Kate Dredge et al.   PLoS One

Early-onset acquired epileptic aphasia (Landau–Kleffner syndrome, LKS) and regressive autistic disorders with epileptic EEG abnormalities: The continuing debate

(2010) Thierry Deonna et al.   BRAIN & DEVELOPMENT

Atypical Benign Partial Epilepsy of Childhood

(2010) J. Aicardi et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

MENTAL AND BEHAVIOURAL DETERIORATION OF CHILDREN WITH EPILEPSY AND CSWS: ACQURIED EPILEPTIC FRONTAL SYNDROME

(2010) Elaine Roulet Perez et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Neuropsychological, intellectual, and behavioral findings in patients with centrotemporal spikes with and without seizures

(2010) Josef Weglage et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

An extended Family with a Dominantly Inherited Speech Disorder

(2010) J. A. Hurst et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region

(2010) Constanze Reutlinger et al.   EPILEPSIA

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: Insights into possible genetic factors

(2009) Gabrielle Rudolf et al.   EPILEPSIA

An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder

(2008) Steven L. Kugler et al.   EPILEPSIA

Familial epilepsy and developmental dysphasia: Description of an Italian pedigree with autosomal dominant inheritance and screening of candidate loci

(2008) Roberto Michelucci et al.   EPILEPSY RESEARCH

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS