Malformations of cortical development and epilepsy

[1]  P. Yakovlev,et al.  Schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with fused lips. , 1946, Journal of neuropathology and experimental neurology.

[2]  P. Yakovlev,et al.  A Study of the Congenital Clefts in the Cerebral Mantle: I. Clefts with Fused Lips , 1946 .

[3]  L. Crome,et al.  MICROGYRIA AND CYTOMEGALIC INCLUSION DISEASE IN INFANCY , 1959, Journal of clinical pathology.

[4]  A. Dekaban.  Large Defects in Cerebral Hemispheres Associated with Cortical Dysgenesis , 1965 .

[5]  M A Falconer,et al.  Focal dysplasia of the cerebral cortex in epilepsy , 1971, Journal of neurology, neurosurgery, and psychiatry.

[6]  M. Ōsawa,et al.  Congenital progressive muscular dystrophy of the fukuyama type — clinical, genetic and pathological considerations — , 1981, Brain and Development.

[7]  M. Cohen,et al.  Mental retardation and congenital malformations of the central nervous system , 1981 .

[8]  M. Sarwar.  Congenital malformations of the brain , 1981 .

[9]  F. Stam,et al.  Familial lissencephaly with extreme neopallial hypoplasia , 1982, Brain and Development.

[10]  B. Liwnicz,et al.  Hypomelanosis of Ito (incontinentia pigmenti achromians)—a clinicopathologic study , 1982, Neurology.

[11]  K. Wisniewski,et al.  Lissencephaly: two distinct clinico-pathological types , 1983, Brain and Development.

[12]  V. Caviness,et al.  Normal and Abnormal Development of the Brain , 1984 .

[13]  W. Dobyns,et al.  Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. , 1984, American journal of medical genetics.

[14]  W. Dobyns,et al.  Computed tomographic appearance of lissencephaly syndromes. , 1985, AJNR. American journal of neuroradiology.

[15]  I. Hägerstrand,et al.  Nephrosis and disturbances of neuronal migration in male siblings--a new hereditary disorder? , 1986, Archives of disease in childhood.

[16]  H. Zellweger,et al.  The Cerebro‐Hepato‐Renal (Zellweger) Syndrome And Other Peroxisomal Disorders , 1987, Developmental medicine and child neurology.

[17]  G. Ponsot,et al.  Hemimegalencephaly: MR imaging in five children. , 1987, Radiology.

[18]  Vincent de Paul,et al.  HEMIMEGALENCEPHALY: A CLINICOPATHOLOGICAL STUDY OF FOUR CASES , 1988, Neuropathology and applied neurobiology.

[19]  D. Norman,et al.  MR of neuronal migration anomalies. , 1987, AJR. American journal of roentgenology.

[20]  P. Battistella,et al.  Unilateral Hypomelanosis of Ito with Hemimegalencephaly , 1988, Acta paediatrica Scandinavica.

[21]  H Staunton,et al.  Microdysgenesis in resected temporal neocortex , 1988, Neurology.

[22]  A. Barkovich,et al.  Band heterotopias: a newly recognized neuronal migration anomaly. , 1989, Radiology.

[23]  D. Norman,et al.  Septo-optic dysplasia: MR imaging. , 1989, Radiology.

[24]  K. S. Fuiks,et al.  Tuberous sclerosis (2nd ed.) , 1989 .

[25]  W. Dobyns.  The neurogenetics of lissencephaly. , 1989, Neurologic clinics.

[26]  D. Norman,et al.  Absence of the septum pellucidum: a useful sign in the diagnosis of congenital brain malformations. , 1988, AJR. American journal of roentgenology.

[27]  J. Persing,et al.  Hemimegalencephaly, hemifacial hypertrophy and intracranial lipoma: a variant of neurofibromatosis. , 1989, Neurofibromatosis.

[28]  L. Ketonen,et al.  Muscle-eye-brain disease (MEB) , 1989, Brain and Development.

[29]  C. Bosman,et al.  Hemimegalencephaly and Intractable Epilepsy: Benefits of Hemispherectomy , 1989, Epilepsia.

[30]  W. Arts,et al.  Diagnostic Features And Clinical Signs Of 21 Patients With Lissencephaly Type I , 1990, Developmental medicine and child neurology.

[31]  S. Chuang,et al.  Unilateral megalencephaly: correlation of MR imaging and pathologic characteristics. , 1990, AJNR. American journal of neuroradiology.

[32]  W. Dobyns,et al.  Epidermal nevus syndrome , 1991, Neurology.

[33]  A. Barkovich,et al.  The spectrum of lissencephaly: Report of ten patients analyzed by magnetic resonance imaging , 1991, Annals of neurology.

[34]  D. Ledbetter,et al.  Clinical and molecular diagnosis of Miller-Dieker syndrome. , 1991, American journal of human genetics.

[35]  N. Rutter,et al.  Hemimegalen‐cephaly: Diagnosis and Teatment , 1991, Developmental medicine and child neurology.

[36]  R. Kuzniecky,et al.  Cortical dysplasia in temporal lobe epilepsy: Magnetic resonance imaging correlations , 1991, Annals of neurology.

[37]  R. Zimmerman,et al.  Lissencephaly-Pachygyria Associated With Congenital Cytomegalovirus Infection , 1991, Journal of child neurology.

[38]  J. Osborne,et al.  On the incidence of fits and mental retardation in tuberous sclerosis. , 1991, Journal of medical genetics.

[39]  F. Andermann,et al.  Diffuse cortical dysplasia, or the 'double cortex' syndrome , 1991, Neurology.

[40]  W. Dobyns,et al.  Vascular abnormalities in epidermal nevus syndrome , 1991, Neurology.

[41]  P. Janmey,et al.  Actin-binding protein requirement for cortical stability and efficient locomotion. , 1992, Science.

[42]  D. Ledbetter,et al.  Causal heterogeneity in isolated lissencephaly , 1992, Neurology.

[43]  A J Barkovich,et al.  Gray matter heterotopias: MR characteristics and correlation with developmental and neurologic manifestations. , 1992, Radiology.

[44]  A. Barkovich,et al.  Nonlissencephalic cortical dysplasias: correlation of imaging findings with clinical deficits. , 1992, AJNR. American journal of neuroradiology.

[45]  A. Barkovich,et al.  Formation, maturation, and disorders of brain neocortex. , 1992, AJNR. American journal of neuroradiology.

[46]  J. Stephenson,et al.  SEIZURES AND INTELLECTUAL DISABILITY ASSOCIATED WITH TUBEROUS SCLEROSIS COMPLEX IN THE WEST OF SCOTLAND , 1992, Developmental medicine and child neurology.

[47]  A. Barkovich,et al.  Schizencephaly: correlation of clinical findings with MR characteristics. , 1992, AJNR. American journal of neuroradiology.

[48]  M. Manfredi,et al.  Hemimegalencephaly and normal intellectual development. , 1992, Journal of neurology, neurosurgery, and psychiatry.

[49]  H. Meencke,et al.  Migration disturbances in epilepsy. , 1992, Epilepsy research. Supplement.

[50]  R. Ramsay,et al.  Comprehensive evaluation of left hemisphere type I schizencephaly. , 1993, Archives of neurology.

[51]  N. Barbaro,et al.  Life-threatening focal status epilepticus due to occult cortical dysplasia. , 1993, Archives of neurology.

[52]  R. Kuzniecky,et al.  Congenital bilateral perisylvian syndrome: study of 31 patients , 1993, The Lancet.

[53]  D. Ledbetter,et al.  Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats , 1993, Nature.

[54]  M. Herning,et al.  Severe schizencephaly without neurological abnormality , 1993, Seizure.

[55]  R. Kuzniecky,et al.  Epilepsia Partialis Continua Due to Cortical Dysplasia , 1993, Journal of child neurology.

[56]  W. Kaufmann,et al.  Intrauterine-Onset Myoclonic Encephalopathy Associated With Cerebral Cortical Dysgenesis , 1993, Journal of child neurology.

[57]  D. Ledbetter,et al.  Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. , 1993, JAMA.

[58]  P. Huttenlocher,et al.  Periventricular heterotopia and epilepsy , 1994, Neurology.

[59]  R. Kuzniecky,et al.  The epileptic spectrum in the congenital bilateral perisylvian syndrome , 1994, Neurology.

[60]  V. Dubowitz.  22nd ENMC Sponsored Workshop on Congenital Muscular Dystrophy held in Baarn, The Netherlands, 14–16 May 1993 , 1994, Neuromuscular Disorders.

[61]  A J Barkovich,et al.  Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters , 1994, Annals of neurology.

[62]  C. Lacroix,et al.  Schizencephaly, consequence of a developmental vasculopathy? A clinicopathological report. , 1994, Clinical neuropathology.

[63]  R. Kuzniecky,et al.  Infantile Spasms: An Early Epileptic Manifestation in Some Patients With the Congenital Bilateral Perisylvian Syndrome , 1994, Journal of child neurology.

[64]  I. Kanazawa,et al.  Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium. , 1994, American journal of human genetics.

[65]  E. Andermann,et al.  Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene. , 1994, Journal of neurology, neurosurgery, and psychiatry.

[66]  A. Barkovich,et al.  Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations. , 1994, AJNR. American journal of neuroradiology.

[67]  C. Baumgartner,et al.  The clinical spectrum of focal cortical dysplasia and epilepsy , 1994 .

[68]  R. Kuzniecky,et al.  The congenital bilateral perisylvian syndrome: imaging findings in a multicenter study. CBPS Study Group. , 1994, AJNR. American journal of neuroradiology.

[69]  J. Bodensteiner,et al.  Unilateral Megalencephaly and Tuberous Sclerosis: Related Disorders? , 1994, Journal of child neurology.

[70]  C. Bellini,et al.  Surgical vs. medical treatment of seizures in hemimegalencephaly , 1994, Brain and Development.

[71]  A. Horton,et al.  Handbook of neuropsychology (Vol. 6) , 1994 .

[72]  David S. Martin,et al.  Pediatric Neuroimaging. 2nd ed , 1995 .

[73]  F Andermann,et al.  Periventricular and subcortical nodular heterotopia. A study of 33 patients. , 1995, Brain : a journal of neurology.

[74]  Graeme D. Jackson,et al.  Magnetic Resonance in Epilepsy , 1994 .

[75]  M. Norman,et al.  Congenital Malformations of the Brain: Pathologic, Embryologic, Clinical, Radiologic and Genetic Aspects , 1995 .

[76]  G. Jackson,et al.  Posterior agyria-pachygyria with polymicrogyria , 1995, Neurology.

[77]  C. Truwit,et al.  Lissencephaly and other malformations of cortical development: 1995 update. , 1995, Neuropediatrics.

[78]  M. Avoli,et al.  Seizure‐like discharges recorded in human dysplastic neocortex maintained in vitro , 1995, Neurology.

[79]  D R Fish,et al.  Abnormalities of gyration, heterotopias, tuberous sclerosis, focal cortical dysplasia, microdysgenesis, dysembryoplastic neuroepithelial tumour and dysgenesis of the archicortex in epilepsy. Clinical, EEG and neuroimaging features in 100 adult patients. , 1995, Brain : a journal of neurology.

[80]  Frederick Andermann,et al.  Intrinsic epileptogenicity of human dysplastic cortex as suggested by corticography and surgical results , 1995, Annals of neurology.

[81]  R. Kuzniecky,et al.  Discordant Occurrence of Cerebral Unilateral Heterotopia and Epilepsy in Monozygotic Twins , 1995, Epilepsia.

[82]  G. Avanzini,et al.  Schizencephaly: Neuroradiologic and Epileptologic Findings , 1996, Epilepsia.

[83]  B. Harding.  Gray matter heterotopia , 1996 .

[84]  D. Ledbetter,et al.  X-linked malformations of neuronal migration , 1996, Neurology.

[85]  H. Moser,et al.  Neuronal migration abnormality in peroxisomal bifunctional enzyme defect , 1996, Annals of neurology.

[86]  M. Patton,et al.  Cobblestone lissencephaly with normal eyes and muscle. , 1996, Neuropediatrics.

[87]  A. Simeone,et al.  Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly , 1996, Nature Genetics.

[88]  M. Tardieu,et al.  Congenital unilateral perisylvian syndrome: radiological basis and clinical correlations. , 1996, Journal of Neurology Neurosurgery & Psychiatry.

[89]  I. Scheffer,et al.  Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development , 1996, Neuron.

[90]  P Evrard,et al.  A classification scheme for malformations of cortical development. , 1996, Neuropediatrics.

[91]  Barkovich Aj,et al.  Neuroimaging of focal malformations of cortical development. , 1996 .

[92]  A. Paetau,et al.  Muscle—eye—brain disease: A neuropathological study , 1997, Annals of neurology.

[93]  M. Delgado,et al.  Schizencephaly: Correlations of clinical and radiologic features , 1997, Neurology.

[94]  D. Smadja,et al.  Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22. , 1997, Journal of medical genetics.

[95]  A. Barkovich,et al.  Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients. , 1997, Neuropediatrics.

[96]  R. Sener.  MR demonstration of cerebral hemimegalencephaly associated with cerebellar involvement (total hemimegalencephaly). , 1997, Computerized medical imaging and graphics : the official journal of the Computerized Medical Imaging Society.

[97]  O. Robain,et al.  Early hemispherectomy in a case of hemimegalencephaly. , 1997, Pediatric neurosurgery.

[98]  R. Cardini,et al.  A Number of Schizencephaly Patients Including 2 Brothers Are Heterozygous for Germline Mutations in the Homeobox Gene EMX2 , 1997, European journal of human genetics : EJHG.

[99]  F. Andermann,et al.  Band heterotopia or double cortex in a male , 1997, Neurology.

[100]  G. Avanzini,et al.  Periventricular Nodular Heterotopia: Epileptogenic Findings , 1997, Epilepsia.

[101]  A. Barkovich,et al.  MR of Zellweger syndrome. , 1997, AJNR. American journal of neuroradiology.

[102]  M. Castillo,et al.  Radiologic-pathologic correlation polymicrogyria. , 1997, AJNR. American journal of neuroradiology.

[103]  A. Engel,et al.  Cortical Tuber Count: A Biomarker Indicating Neurologic Severity of Tuberous Sclerosis Complex , 1997, Journal of child neurology.

[104]  A J Barkovich,et al.  Focal transmantle dysplasia: A specific malformation of cortical development , 1997, Neurology.

[105]  R. Cardini,et al.  Familial schizencephaly associated with EMX2 mutation , 1997, Neurology.

[106]  C. Truwit,et al.  Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: A new X-linked mental retardation syndrome , 1997, Neurology.

[107]  R. Kuzniecky,et al.  Bilateral parasagittal parietooccipital polymicrogyria and epilepsy , 1997, Annals of neurology.

[108]  D. Spencer,et al.  Focal cortical dysplasia of Taylor, balloon cell subtype: MR differentiation from low-grade tumors. , 1997, AJNR. American journal of neuroradiology.

[109]  F. Dubeau,et al.  Periventricular nodular heterotopia and intractable temporal lobe epilepsy: Poor outcome after temporal lobe resection , 1997, Annals of neurology.

[110]  S Povey,et al.  Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. , 1997, Science.

[111]  M. Mizuguchi,et al.  Immunohistochemical expression of cell adhesion molecule L1 in hemimegalencephaly. , 1995, Pediatric neurology.

[112]  R. Sener.  Schizencephaly and congenital cytomegalovirus infection. , 1998, Journal of neuroradiology. Journal de neuroradiologie.

[113]  I. Kanazawa,et al.  An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy , 1998, Nature.

[114]  P. Griffiths,et al.  Hemimegalencephaly and focal megalencephaly in tuberous sclerosis complex. , 1998, AJNR. American journal of neuroradiology.

[115]  J. Pruvo,et al.  Unusual MRI findings in grey matter heteropia , 1998, Neuroradiology.

[116]  Shun–ichi Kobayashi.  Tokyo campus rising , 1998, Nature.

[117]  B. Echenne,et al.  doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). , 1998, Human molecular genetics.

[118]  D. Ledbetter,et al.  LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. , 1998, Human molecular genetics.

[119]  E. Boncinelli,et al.  Cytomegalovirus infection and schizencephaly: Case reports , 1998, Annals of neurology.

[120]  A. Friedman,et al.  Seizure onset from periventricular nodular heterotopias , 1998, Neurology.

[121]  B. Rosenblatt,et al.  Congenital bilateral perisylvian polymicrogyria presenting as congenital hemiplegia , 1998, Neurology.

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

[123]  M. Oda,et al.  Hemimegalencephaly: signal changes suggesting abnormal myelination on MRI , 1998, Neuroradiology.

[124]  C. Truwit,et al.  Microlissencephaly: A Heterogeneous Malformation of Cortical Development , 1998, Neuropediatrics.

[125]  N. Aida.  Invited. Fukuyama congenital muscular dystrophy: A neuroradiologic review , 1998, Journal of magnetic resonance imaging : JMRI.

[126]  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.

[127]  A. Barkovich,et al.  Sublobar dysplasia , 1998, Neurology.

[128]  P. Genton,et al.  Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus , 1998, Neurology.

[129]  E. Oka,et al.  Electroclinical characteristics of hemimegalencephaly. , 1999, Pediatric neurology.

[130]  N. Fejerman,et al.  A Particular Type of Epilepsy in Children with Congenital Hemiparesis Associated with Unilateral Polymicrogyria , 1999, Epilepsia.

[131]  D. Lettori,et al.  Neuro-Cognitive Development and Epilepsy Outcome in Children with Surgically Treated Hemimegalencephaly , 1999, Neuropediatrics.

[132]  R. Kuzniecky,et al.  Temporal lobe developmental malformations and hippocampal sclerosis , 1999, Neurology.

[133]  A. Chapelle,et al.  Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. , 1999, American journal of human genetics.

[134]  A J Barkovich,et al.  Syndromes of bilateral symmetrical polymicrogyria. , 1999, AJNR. American journal of neuroradiology.

[135]  G. Jackson,et al.  Clinical and imaging features of cortical malformations in childhood , 1999, Neurology.

[136]  S. Verhoef,et al.  Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation , 1999, Journal of medical genetics.

[137]  A. Barkovich,et al.  Adult-onset neurologic dysfunction associated with cortical malformations. , 1999, AJNR. American journal of neuroradiology.

[138]  W. Dobyns,et al.  Microcephaly with Simplified Gyral Pattern (Oligogyric Microcephaly) and Microlissencephaly , 1999 .

[139]  W. Dobyns,et al.  Epilepsy and malformations of the cerebral cortex. , 1999, Neurologia.

[140]  C. Blakemore,et al.  Characterization of nodular neuronal heterotopia in children. , 1999, Brain : a journal of neurology.

[141]  M. Sasaki,et al.  Functional imaging in periventricular nodular heterotopia with the use of FDG-PET and HMPAO-SPECT , 1999, Neurosurgical Review.

[142]  D. Ledbetter,et al.  Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. , 1999, Human molecular genetics.

[143]  D. Ledbetter,et al.  Differences in the gyral pattern distinguish chromosome 17–linked and X-linked lissencephaly , 1999, Neurology.

[144]  The relevance of slight migrational disturbances (microdysgenesis) to the etiology of the epilepsies. , 1999, Advances in neurology.

[145]  W. Dobyns,et al.  X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. , 1999, American journal of medical genetics.

[146]  N. De Stefano,et al.  Association of trisomy 9p and band heterotopia , 1999, Neurology.

[147]  I. Scheffer,et al.  Characterization of mutations in the gene doublecortin in patients with double cortex syndrome , 1999, Annals of neurology.

[148]  B. Dan,et al.  MRI spectrum of cortical malformations in tuberous sclerosis complex , 2000, Brain and Development.

[149]  F. Bartolomei,et al.  Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment , 2000, Annals of neurology.

[150]  Delphine Denis,et al.  Schizencephaly: clinical and imaging features in 30 infantile cases , 2000, Brain and Development.

[151]  I. Scheffer,et al.  Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings , 2000, Pediatric Radiology.

[152]  A J Barkovich,et al.  Bilateral frontal polymicrogyria , 2000, Neurology.

[153]  K. Ghaedi,et al.  Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures. , 2000, Human molecular genetics.

[154]  I. Scheffer,et al.  Genetic and neuroradiological heterogeneity of double cortex syndrome , 2000, Annals of neurology.

[155]  C. Walsh,et al.  Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations , 2000, Nature Genetics.

[156]  M. Castillo.  Pediatric Neuroimaging, 3rd ed. , 2000 .

[157]  D. Ledbetter,et al.  Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia , 2001, European Journal of Human Genetics.

[158]  D. Ledbetter,et al.  LIS1: from cortical malformation to essential protein of cellular dynamics , 2001, Trends in Neurosciences.

[159]  N W Wood,et al.  Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. , 2001, Human molecular genetics.

[160]  T. Matsuki,et al.  Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis , 2001, Annals of neurology.

[161]  D. Ledbetter,et al.  Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene , 2001, Neurology.

[162]  D. Kwiatkowski,et al.  Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. , 2001, American journal of human genetics.

[163]  L Tassi,et al.  Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome. , 2002, Brain : a journal of neurology.

[164]  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.

[165]  D. Lardizabal,et al.  Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX. , 2002, Neurology.

[166]  L. Flores-Sarnat,et al.  Hemimegalencephaly: Part 1. Genetic, Clinical, and Imaging Aspects , 2002, Journal of child neurology.

[167]  P. Vigliano,et al.  Transmantle Dysplasia in Tuberous Sclerosis , 2002, Journal of child neurology.

[168]  D. Ledbetter,et al.  Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1) , 2002, Human mutation.