Genetic evaluation and counseling for epilepsy

[1]  S. Yim,et al.  Altered DNA copy number in patients with different seizure disorder type: By array-CGH , 2007, Brain and Development.

[2]  M. Leppert,et al.  A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome , 2009, PLoS genetics.

[3]  J. Tolmie,et al.  Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism , 2005, Brain and Development.

[4]  Comment on “Altered DNA copy number in patients with different seizure disorder type: By array-CGH” by Kim HS et al. Brain & Development 2007;29:639–643 , 2009, Brain and Development.

[5]  R. Guerrini,et al.  Genetic malformations of cortical development , 2006, Experimental Brain Research.

[6]  A. Schinzel,et al.  Chromosome imbalances associated with epilepsy. , 2001, American journal of medical genetics.

[7]  Masashi Tanaka,et al.  Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome. , 1997, Brain : a journal of neurology.

[8]  I. Scheffer,et al.  Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? , 2009, Epilepsia.

[9]  R. Sparkes,et al.  Ring 14 chromosome: association with seizures. , 1981, American journal of medical genetics.

[10]  B. Bourgeois,et al.  Debate: Does genetic information in humans help us treat patients? , 2008, Epilepsia.

[11]  G. Tremont,et al.  High Risk of Reading Disability and Speech Sound Disorder in Rolandic Epilepsy Families: Case–Control Study , 2007, Epilepsia.

[12]  B. Moorjani Infantile Spasms: Diagnosis, Management and Prognosis Infantile Spasms: Diagnosis, Management and Prognosis , 2004, The Lancet Neurology.

[13]  M. Ruberg,et al.  Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females , 2009, PLoS genetics.

[14]  M. Spence,et al.  Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6. , 1991, American journal of medical genetics.

[15]  P. Waters,et al.  Folinic acid–responsive seizures are identical to pyridoxine‐dependent epilepsy , 2009, Annals of neurology.

[16]  W. Dobyns,et al.  Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. , 1997, American journal of human genetics.

[17]  S. Seri,et al.  Idiopathic epilepsies with seizures precipitated by fever: clinical and genetic study of 132 patients , 2005 .

[18]  F. Mena,et al.  [Juvenile myoclonic epilepsy: Janz' syndrome]. , 1989, Revista chilena de pediatria.

[19]  M. Burns,et al.  Case-Control Study , 2020, Definitions.

[20]  L. Strug,et al.  Autosomal Dominant Inheritance of Centrotemporal Sharp Waves in Rolandic Epilepsy Families , 2007, Epilepsia.

[21]  P. Striano,et al.  An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy , 2007, Neurology.

[22]  Wei-Yang Lu,et al.  Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy , 2002, Nature Genetics.

[23]  D. Dlugos,et al.  Role of genetics in the diagnosis and treatment of epilepsy , 2006, Expert review of neurotherapeutics.

[24]  G. Scholz,et al.  Morbidity Risk for Seizures and Epilepsy in Offspring of Patients with Epilepsy , 1989 .

[25]  R. Siebert,et al.  Array-CGH , 2012, medizinische genetik.

[26]  G. Beck-Mannagetta Genetics of the Epilepsies , 1989, Springer Berlin Heidelberg.

[27]  M. T. Medina,et al.  DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy , 2009, Epilepsia.

[28]  R. Guerrini,et al.  Subcortical band heterotopia with simplified gyral pattern and syndactyly , 2003, American journal of medical genetics. Part A.

[29]  I. Scheffer,et al.  Navigating the channels and beyond: unravelling the genetics of the epilepsies , 2008, The Lancet Neurology.

[30]  Samuel F. Berkovic,et al.  Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B , 1998, Nature Genetics.

[31]  Christian E Elger,et al.  15q13.3 microdeletions increase risk of idiopathic generalized epilepsy , 2009, Nature Genetics.

[32]  C. Walsh,et al.  Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations , 2001, Nature Genetics.

[33]  F. Zara,et al.  Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations , 2004, Epilepsia.

[34]  A. Battaglia,et al.  Chromosomal disorders associated with epilepsy. , 2005, Epileptic disorders : international epilepsy journal with videotape.

[35]  P. Lieberman,et al.  An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder , 2008, Epilepsia.

[36]  I. Scheffer,et al.  Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1 , 2009, Annals of neurology.

[37]  S Shinnar,et al.  Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy. , 2000, American journal of human genetics.

[38]  I. Scheffer,et al.  Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? , 2009, Brain and Development.

[39]  L. Strug,et al.  Evidence of shared genetic risk factors for migraine and rolandic epilepsy , 2009, Epilepsia.

[40]  O. Evgrafov,et al.  BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. , 2003, American journal of human genetics.

[41]  W. Dobyns,et al.  Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans , 2002, Nature Genetics.

[42]  M. T. Medina,et al.  Mutations in EFHC1 cause juvenile myoclonic epilepsy , 2004, Nature Genetics.

[43]  P. Genton,et al.  Antiepileptic Drug‐Induced Worsening of Seizures in Children , 1998, Epilepsia.

[44]  Christian R Marshall,et al.  Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. , 2008, American journal of human genetics.

[45]  D. Pal,et al.  The state of the art in the genetic analysis of the epilepsies , 2007, Current neurology and neuroscience reports.

[46]  Marie-Noëlle Metz-Lutz,et al.  SRPX2 mutations in disorders of language cortex and cognition. , 2006, Human molecular genetics.

[47]  E. Zackai,et al.  Polymicrogyria in chromosome 22 deletion syndrome , 1998, Neurology.

[48]  N. Fejerman,et al.  Ketogenic Diet in Patients with Dravet Syndrome , 2005, Epilepsia.

[49]  M. Baumgartner,et al.  Mutations in antiquitin in individuals with pyridoxine-dependent seizures , 2006, Nature Medicine.

[50]  I. Leppik Role of New and Established Antiepileptic Drugs , 1998, Epilepsia.

[51]  J. Jankovic,et al.  The inv dup(l5) syndrome: A clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy , 1997 .

[52]  I. Scheffer,et al.  Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters , 2002, Epilepsia.

[53]  J. Hattori,et al.  A Screening test for the prediction of Dravet syndrome before one year of age , 2008, Epilepsia.

[54]  S. Berkovic,et al.  A potassium channel mutation in neonatal human epilepsy. , 1998, Science.

[55]  I. Scheffer,et al.  Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy , 2002, Nature Genetics.

[56]  F. Vogel,et al.  Genetic counseling in the epilepsies , 1987, Human Genetics.

[57]  Samuel F. Berkovic,et al.  Mechanisms of human inherited epilepsies , 2009, Progress in Neurobiology.

[58]  I. Scheffer,et al.  Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. , 2009, Human molecular genetics.

[59]  J. Gécz,et al.  Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. , 2004, American journal of human genetics.

[60]  I. Scheffer,et al.  A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy , 2007, Epilepsia.

[61]  C. Walsh,et al.  Autosomal recessive form of periventricular heterotopia , 2003, Neurology.

[62]  S Shinnar,et al.  Genome scan of idiopathic generalized epilepsy: Evidence for major susceptibility gene and modifying genes influencing the seizure type , 2001, Annals of neurology.

[63]  P. de Jonghe,et al.  Genetics of epilepsy syndromes starting in the first year of life , 2009, Neurology.

[64]  I. Scheffer,et al.  Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. , 1997, Brain : a journal of neurology.

[65]  Mark Leppert,et al.  A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns , 1998, Nature Genetics.

[66]  E. Andermann,et al.  Familial Association of Neuropsychological Traits in Patients With Generalized and Partial Seizure Disorders , 2002, Journal of clinical and experimental neuropsychology.

[67]  T. Tsuboi,et al.  Incidence of seizures and EEG abnormalities among offspring of epileptic patients , 1977, Human Genetics.

[68]  B. Schmitz,et al.  Juvenile myoclonic epilepsy : the Janz syndrome , 2000 .

[69]  T. Wienker,et al.  Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6 , 1997, Neurology.

[70]  T. Becker,et al.  Association of BRD2 polymorphisms with photoparoxysmal response , 2006, Neuroscience Letters.

[71]  M. Meisler,et al.  Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects , 2010, The Journal of physiology.

[72]  S. Seri,et al.  Idiopathic Epilepsies with Seizures Precipitated by Fever and SCN1A Abnormalities , 2007, Epilepsia.

[73]  S. Moshé,et al.  Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy , 2006, Brain and Development.

[74]  R. Guerrini,et al.  Severe myoclonic epilepsy in infancy: A systematic review and a meta‐analysis of individual patient data , 2008, Epilepsia.

[75]  I. Scheffer,et al.  SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis , 2009, Epilepsia.

[76]  I. Scheffer,et al.  Autosomal dominant rolandic epilepsy and speech dyspraxia: A new syndrome with anticipation , 1995, Annals of neurology.

[77]  William B Dobyns,et al.  Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia , 1998, Neuron.

[78]  F. Schmidt Meta-Analysis , 2008 .

[79]  J. Osborne,et al.  Randomized trial of vigabatrin in patients with infantile spasms. , 2002, Neurology.

[80]  A. Ballabio,et al.  Autosomal recessive Rolandic epilepsy with paroxysmal exercise‐induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12‐11.2 , 1999, Annals of neurology.

[81]  W. Hauser,et al.  Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features , 2002, Nature Genetics.

[82]  Y. Berwald‐Netter,et al.  A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome , 1998, Cell.

[83]  W. Christian,et al.  On the genetics of the primary generalized epilepsy with sporadic myoclonias of impulsive petit mal type , 1973, Humangenetik.

[84]  Monrad-Krohn Gh A new epileptic syndrome. , 1951 .

[85]  T. Negoro,et al.  Infantile spasms: Etiological factors, clinical aspects, and long term prognosis in 200 cases , 1981, European Journal of Pediatrics.

[86]  S. Blom,et al.  Benign Epilepsy of Childhood with Centrotemporal EEG Foci: A Genetic Study , 1975, Epilepsia.

[87]  Y. Ng,et al.  The Hitchhiker's guide to the child neurologist's genetic evaluation of epilepsy. , 2008, Seminars in pediatric neurology.

[88]  H. Saal,et al.  Prenatal Screening and Diagnosis for Pediatricians , 2004 .

[89]  I. Scheffer,et al.  doublecortin , a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein , 1998, Cell.

[90]  I. Scheffer,et al.  A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy , 1995, Nature Genetics.

[91]  D. Janz,et al.  Juvenile myoclonic epilepsy. Epilepsy with impulsive petit mal. , 1989, Cleveland Clinic journal of medicine.

[92]  Michel Baulac,et al.  First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene , 2001, Nature Genetics.

[93]  R. Macdonald,et al.  The GABRG2 Mutation, Q351X, Associated with Generalized Epilepsy with Febrile Seizures Plus, Has Both Loss of Function and Dominant-Negative Suppression , 2009, The Journal of Neuroscience.

[94]  D. Mandelbaum,et al.  Polyspike and Waves Do Not Predict Generalized Tonic-Clonic Seizures in Childhood Absence Epilepsy , 2010, Journal of child neurology.

[95]  L. Strug,et al.  Evaluating candidate genes in common epilepsies and the nature of evidence , 2008, Epilepsia.

[96]  J. Opitz,et al.  Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6. , 1988, American journal of medical genetics.