<p>Table e-1: Patient Information. All patients included numbered with age and sex; classification in genotype and LIS groups according to forebrain involvement; cerebellar vermis hemispheres, midbrain, pons and medulla abnormalities recorded for each case. y= year; m= month; d= day; Fe= female; M= male; *= not known; BH= band heterotopia; SGP= simplified gyral pattern; CBSC= cobblestone complex; SCBH= subcortical BH; SELH= subependymal linear heterotopia; PVNH= periventricular nodular heterotopia; WWS= Walker-Warburg Syndrome; PVS= perivascular spaces; F= frontal; Pa= parietal; O= occipital; T= temporal; A= anterior; P= posterior; ACC= agenesis of corpus callosum; PMG= polymicrogyria; abn= abnormalities; p = presumably; N = normal; FE = fissures enlarged; IVH = inferior vermis hypoplasia; MH = mildly hypoplastic; SH = severely hypoplastic; H = hypoplastic; D = dysplastic; VHD = vermis hypoplasia and dysplasia; NA = not assessed; ND = not determined; PMK = pontomedullary "kink"; MC = midline cleft; DES = dysequilibrium syndrome.</p><p>Patients Classification Classification Forebrain involvement Cerebellum and Brainstem (genotype/Phenotype) LIS groups involvement Numb ag se Vermis Hemisphe Midbr Pons Medul er e x res ain la 1 * M LIS1 cLIS Pachygyria P - CSZ N N N N N 2 13 M LIS1 mosaicism cLIS Pachygyria P>A - CSZ P N N N N N y 3 * Fe LIS1-P cLIS Pachygyria P>A - CSZ N N N N N 4 5y M LIS1-P cLIS Pachygyria P>A - CSZ N N N N N 5 * * LIS1-P cLIS Pachygyria P>A - CSZ N N N N N 6 * * LIS1-P cLIS Pachygyria P>A - F PVNH - CSZ N N N N N 7 * M LIS1-P cLIS Pachygyria P>A - CSZ FE FE N MH MH 8 * * LIS1-P cLIS Pachygyria P - CSZ N N N N N 9 * M LIS1-P cLIS Pachygyria P - CSZ N N N MH MH 10 * M LIS1-P cLIS Entire brain pachygyria P>A - CSZ P N N N N N 11 27 Fe LIS1-P cLIS Pachygyria P>A - CSZ FE FE N N N y 12 * Fe LIS1-P cLIS Pachygyria F central and Pa - CSZ FE N N MH D 13 * M LIS1-P cLIS Pachygyria P>A - CSZ NA N N N N 14 6m M LIS1-P cLIS SGP A and Pachygyria P - CSZ N N MH MH MH 15 * Fe LIS1-P cLIS Pachygyria P - CSZ N N N N N 16 2y Fe LIS1-P cLIS SGP A and Pachygyria P - CSZ FE FE N N N 17 20 Fe LIS1-P cLIS Pachygyria P - CSZ FE FE N N N y 18 2y Fe LIS1-P cLIS Pachygyria P>A - CSZ N N N N MH 19 4m Fe LIS1-P cLIS Pachygyria P>A - CSZ NA NA MH MH NA 20 2y Fe LIS1-P cLIS Pachygyria P>A - CSZ N NA MH MH MH 21 * M LIS1-P cLIS Pachygyria P>A - CSZ MH MH MH MH MH 22 4m Fe LIS1-P cLIS Pachygyria P>A - CSZ IVH N N N N 23 6m M LIS1-P cLIS Pachygyria P>A - CSZ P IVH H - D N N MH 24 4.5 M LIS1-P cLIS Pachygyria P>A - CSZ N N N N N y 25 2y M LIS1-P cLIS Pachygyria P>A - CSZ P N N N N N 26 * Fe LIS1-P cLIS Pachygyria P>A - CSZ P IVH MH MH MH MH 27 5m M LIS1-P cLIS Entire brain pachygyria P>A - CSZ P N N N N N 28 4m M LIS1-P cLIS Entire brain pachygyria P>A - CSZ P N N N N N 29 10 M LIS1-P cLIS Pachygyria P>A - CSZ P FE FE N MH N y 30 7m Fe LIS1-P cLIS Pachygyria P>A - CSZ P N N N N N 31 3m M LIS1-P cLIS Pachygyria P>A - CSZ P N N N MH MH 32 14 Fe LIS1-P cLIS Pachygyria P>A - CSZ P N N N N N m 33 * Fe DCX cLIS Pachygyria F central - CSZ IVH N N N N 34 7y M DCX cLIS Pachygyria F central - CSZ IVH N N N N 35 32 M DCX cLIS Pachygyria F central mild - CSZ IVH N N N N y 36 * M DCX cLIS Extensive pachygyria A>P - CSZ N N N N N 37 * M DCX cLIS Pachygyria F central - CSZ N N N N N 38 29 Fe DCX cLIS Entire brain pachygyria - SCBH - CSZ IVH MH N N MH y 39 5y Fe DCX cLIS Pachygyria A>P - PVS enlarged F - N N N N N CSZ 40 7y M DCX cLIS Pachygyria - Very thick cortex - CSZ N N NA N N 41 6y M DCX-P cLIS Agyria F - Pachygyria P - CSZ N N N N N 42 * M DCX-P cLIS Pachygyria F central and paracentral IVH N N N N BH - CSZ 43 * * DCX-P cLIS Pachygyria A>P - CSZ N N N N N 44 2y M DCX-P cLIS Pachygyria F anterior mild - CSZ N N N MH MH 45 * M DCX-P cLIS Pachygyria F T mild - CSZ N N N N N 46 2y M DCX-P cLIS Entire brain A>P and TL - CSZ VHD MH - FE D SH SH 47 4y Fe DCX-P cLIS Pachygyria F IVH N N N MH 48 9y M DCX-P cLIS Pachygyria F central - BH F IVH N MH N N 49 6m Fe DCX-P cLIS Entire brain pachygyria A>P and TL - IVH N N N N CSZ 50 20 Fe DCX-P cLIS Pachygyria A>P - CSZ N N N N N m 51 13 M DCX-P cLIS Pachygyria A>P - PVS enlarged P - N N N N N y CSZ 52 8y Fe DCX-P cLIS Pachygyria A > P - CSZ N N N N N 53 7d M No mutation cLIS Entire brain agyria - CSZ P - ACC MH MH MH MH MH Total patients LIS1 (2); LIS1-P (30); cLIS (53) (n) DCX (8); DCX-P (12); No mutation (1) 54 * * ARX vLIS Pachygyria P>A - ACC VHD MH MH MH MH 55 * * ARX vLIS Pachygyria P>A - ACC VHD MH MH MH MH 56 * * ARX vLIS Pachygyria P>A - ACC VHD MH MH MH MH 57 * * ARX vLIS Pachygyria P>A - ACC VHD MH MH MH MH 58 * * RELN vLIS Entire Brain pachygyria - Hippocampal VHD SH SH MH MH abn 59 9y Fe RELN vLIS Pachygyria A > P - Hippocampal abn SH SH N MH MH 60 * * RELN-P vLIS Pachygyria A > P - Hippocampal abn SH SH - no MH MH MH fissures 61 2y M RELN-P vLIS Pachygyria A > P - Hippocampal abn SH SH MH MH MH 62 2y Fe ND vLIS Extensive pachygyria left FPaO - right IVH N N N N FPa 63 6y M ND vLIS Entire brain pachygyria VHD NA N N N 64 * * ND vLIS Entire brain pachygyria VHD NA MH MH MH 65 * * ND vLIS Diffuse pachygyria N N N N N 66 * * ND vLIS Entire brain pachygyria VHD SH MH MH MH 67 * M ND vLIS Entire brain pachygyria - ondulating BH SH SH SH SH SH - ACC 68 * M ND vLIS Entire brain pachygyria - ondulating BH Rotated N N N N sparing A T - ACC fissures 69 * M ND vLIS Pachygyria P>A - CSZ P N N N N N 70 5m M ND vLIS Pachygyria P>A - BH - PVNH - CSZ N N N N N 71 * * ND vLIS Entire brain pachygyria P>A PVNH - MH N MH MH MH CSZ 72 * M ND vLIS Entire Brain pachygyria MH MH N N MH 73 1m Fe ND vLIS Entire Brain pachygyria - PVNH - CSZ MH N N N N 74 * * ND vLIS Diffuse pachygyria N NA N MH MH 75 5m M ND vLIS Agyria - PVNH - CSZ MH MH MH MH MH 76 21 M ND vLIS Pachygyria P>A - CSZ P N N N N MH m 77 * Fe ND vLIS Entire brain pachygyria - vanishing WM VHD SH - MH SH SH - CSZ - ACC cystic 78 1d M ND vLIS Entire brain agyria - SELH - ACC SH SH D SH SH 79 2d M ND vLIS Entire brain pachygyria - SCBH - CSZ VHD H - D N MH MH 80 5m Fe ND vLIS Entire brain pachygyria - SCBH - N N N N N PVNH - CSZ 81 3y Fe ND vLIS Entire brain pachygyria - CSZ N N N N N 82 14 M ND vLIS Entire brain agyria - SELH - ACC SH SH MH MH MH m 83 2d Fe ND vLIS Microcephaly - Pachygyria entire brain MH MH MH MH MH A>P - CSZ 84 * Fe ND vLIS Microcephaly - Pachygyria F central VHD SH SH SH SH and Pa - ACC 85 * Fe ND vLIS Pachygyria P>A - Hydrocephalus - CSZ MH MH MH MH MH - ACC 86 4m M ND vLIS Mostly central pachygyria - CSZ - ACC SH SH SH SH SH 87 * M ND vLIS Pachygyria A>P - CSZ - ACC VHD MH N MH MH Total patients ARX (4); RELN (2); vLIS (34) (n) RELN-P (2); ND (26); 88 22 M VLDLR no DES Entire brain pachygyria A>P and T SH SH SH MH SH y 89 * * VLDLR DES Pachygyria SGP SH SH MH MH MH 90 6y Fe VLDLR-P no DES Entire brain pachygyria A>P and T SH SH SH MH SH 91 1y Fe VLDLR-P no DES Entire brain pachygyria A>P and T SH SH SH MH SH 92 4y Fe VLDLR-P DES Diffuse Pachygyria P>A SH SH MH MH MH 93 5y Fe VLDLR-P DES Diffuse Pachygyria P>A SH SH MH MH MH 94 2y Fe VLDLR-P DES Diffuse Pachygyria P>A SH SH MH MH MH 95 7y M VLDLR-P DES Diffuse Pachygyria P>A SH SH MH MH MH Total patients VLDLR (2); DES (5); (n) VLDLR-P (6) no DES (3) 96 9y Fe CMD-P CBSC Entire brain CBSC - enlarged PVS VHD D MH MH MH 97 1y M CMD-P CBSC CBSC - enlarged PVS VHD D - cysts MH MH MH 98 1d M CMD-P CBSC Entıre braın CBSC VHD H - D D SH SH 99 11 M CMD-P CBSC CBSC occipital VHD - D - cysts D MH MH y cysts 100 3d Fe CMD-P CBSC Entire brain CBSC A>P - ACC SH H - D D SH SH 101 19 M CMD-P CBSC Entire brain CBSC - unusual PMG VHD D - cysts D MH MH y 102 9m M MEB CBSC CBSC - F hyposulcation VHD D - cysts MH MH MH 103 1y Fe MEB CBSC CBSC cortex sparing anterior superior VHD D - cysts D MH MH TL 104 1d Fe WWS CBSC Diffuse CBSC - hydrocephalus VHD H - D D SH - SH PMK 105 28 Fe WWS CBSC Diffuse CBSC - hydrocephalus VHD H - D D SH - SH d PMK 106 2d M WWS CBSC Diffuse CBSC entire brain SH H - D D SH - SH PMK 107 5d M WWS CBSC Diffuse CBSC entire brain SH SH D SH - SH PMK - MC 108 3y M WWS CBSC Diffuse CBSC entire brain SH SH D SH - SH PMK - MC 109 5m M WWS CBSC Diffuse CBSC entire brain SH SH D SH - SH PMK - MC 110 * Fe WWS CBSC Diffuse CBSC entire brain SH SH D SH - SH PMK - MC 111 14 Fe WWS CBSC Diffuse CBSC entire brain SH SH D SH - SH m PMK - MC Total patients CMD-P (6); MEB (2); CBSC (16) (n) WWS (8)</p>