Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay

Developmental Expression Patterns of KCC2 and Functionally Associated Molecules in the Human Brain

(2015) Goran Sedmak et al.   CEREBRAL CORTEX

The Contribution of Raised Intraneuronal Chloride to Epileptic Network Activity

(2015) H. Alfonsa et al.   JOURNAL OF NEUROSCIENCE

SCN2Aencephalopathy

(2015) Katherine B. Howell et al.   NEUROLOGY

Development and regulation of chloride homeostasis in the central nervous system

(2015) Miho Watanabe et al.   Frontiers in Cellular Neuroscience

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

(2015) Tommy Stödberg et al.   Nature Communications

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

(2014) K. T. Kahle et al.   EMBO REPORTS

SLC25A22is a novel gene for migrating partial seizures in infancy

(2013) Annapurna Poduri et al.   ANNALS OF NEUROLOGY

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

(2013) Amy McTague et al.   BRAIN

Novel Compound Heterozygous Mutations inTBC1D24Cause Familial Malignant Migrating Partial Seizures of Infancy

(2013) Mathieu Milh et al.   HUMAN MUTATION

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

A Trafficking-Deficient Mutant of KCC3 Reveals Dominant-Negative Effects on K–Cl Cotransport Function

(2013) Jinlong Ding et al.   PLoS One

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

(2012) Annapurna Poduri et al.   EPILEPSIA

Transcript-Specific Associations of SLC12A5 (KCC2) in Human Prefrontal Cortex with Development, Schizophrenia, and Affective Disorders

(2012) R. Tao et al.   JOURNAL OF NEUROSCIENCE

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

(2012) Giulia Barcia et al.   NATURE GENETICS

Role of the neuronal K-Cl co-transporter KCC2 in inhibitory and excitatory neurotransmission

(2012) Ingrid Chamma et al.   Frontiers in Cellular Neuroscience

Expression of GABA Signaling Molecules KCC2, NKCC1, and GAD1 in Cortical Development and Schizophrenia

(2011) T. M. Hyde et al.   JOURNAL OF NEUROSCIENCE

Glutamatergic pre-ictal discharges emerge at the transition to seizure in human epilepsy

(2011) Gilles Huberfeld et al.   NATURE NEUROSCIENCE

De novo SCN1A mutations in migrating partial seizures of infancy

(2011) D. Carranza Rojo et al.   NEUROLOGY

Differences in the Large Extracellular Loop between the K+-Cl−Cotransporters KCC2 and KCC4

(2010) Anna-Maria Hartmann et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Loss of Cation-Chloride Cotransporter Expression in Preterm Infants With White Matter Lesions: Implications for the Pathogenesis of Epilepsy

(2010) Shenandoah Robinson et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Emergent Dynamics of Fast Ripples in the Epileptic Hippocampus

(2010) J. M. Ibarz et al.   JOURNAL OF NEUROSCIENCE